Peds Board Review - Genetics Flashcards

Terms Definitions
What are the characteristics of WAGR Syndrome
** Wilms Tumor (50% by age 3)
** Aniridia
** Genitourinary anomalies (hypospadias, crypto, small penis, hypoplaastic scrotum)
***mental Retardation (< 35 to norm)
- Gonadoblastoma
- Long face
- Upward-splanting palpebral fissures
- Ptosis
- Beaked nose
- poorly formed ears
What genes are associated with WAGR Syndrome
Absence of:
**PAX6
**WT1 (Willms Tumor 1)
What is the inheritance pattern and gene mutation in Alagille Syndrome?
AD

Jagged-1 (JAG1)
What are the characteristics of Alagille Syndrome (20p12-)?
- Bile duct paucity w/cholestasis (first 2 mo of life - cholestasis, jaundice, puritis)
- Pulm valve/artery stenosis / peripheral artery stenosis
- Ocular defects (posterior embryotoxon, prominent Schwalbe ring)
- Skeletal defects: butterfly vertebrae
**Triangular facies w/pointed chin
Long nose w/broad mid-nose
***Periphral and Branch pulmonic stenosis (67%), TOF (7-16%)
What causes Williams Syndrome?
microdeletion on long arm of Chromo 7

7q11.23-

missing Elastin gene detected by FISH
What are the characteristic features and facies of Williams Syndrome?
- Periorbial fullness w/ downturned prominet lower lip
**Friendly "coctail party" personality
- Stallate pattern of the iris
- Strabismus
**Supervalvular aorrtic stenosis
- Mental retardation
- Hypercalcemia
What is the most common inheritied mental retardation syndrome?
Fragile X

1/1650 males
Females: unstable CGG repeat in FMR1 gene on Xq27
What ar the common clinical features of Fragile X syndrome?
- Mental retardation
- Large head
- long face w/large ears
- large hands and feet
- macroorchidism
- hyperentendible joints
What are some of the X-linked disorders?
- Hemophilia A
- Duchene muscular dystrophy
- Becker Muscular dystrophy
- Red-Green Color Blindness
- Incontinentia Pigmenti (X-linked dominant)
- G6PD (X-linked recessive)
- Rette Syndrome (X-linked dominant)
- Alport Syndrome
- Aicardi Syndrome (X-linked dominant)
- Melnick-Needles syn (X-linked dominant)
- Vit D resistant rickets (X-linked dominant)
How does Duchenne muscular dystrophy commonly present?
- Progressive muscle weakness
- calf hypertrophy
- Gowers' sign ~ 2yo
- cardiomyopathy
- cognitive delays
Describe a girl with Turners Syndrome
- Phenotypically female
- Short stature
- Ovarian failure/gonadal dysgenesis
- Lack of secondary sexual development
- (Primary amenorrhea and absence of breast development but with pubic hair)
Name some AR disorders
CF
Hemoglobinopathies
You have a girl bown who is
** IUGR
** rocker bottom feet
** club foot/clenched fist
** VSD with multiple dysplastic valves
- high forehead
- microcephaly, overlapping fingers
- hypoplastic nails

What Trisomy do you suspect
Edwards (Trisomy 18)

What is the recurrence risk for future pregnancies?
You have a girl bown who is
** IUGR
** rocker bottom feet
** club foot/clenched fist
** VSD with multiple dysplastic valves
- high forehead
- microcephaly, overlapping fingers
- hypoplastic nails

What Trisomy do you suspect
90% have structural heart defects
Female 4:1
Risk of recurrentce for future preg <1%
A baby is born with:
** cleft lip
** postaxial polyactaly of limbs
** holoprosencephaly
** hypolastic or absent ribs
** GU anomalies
- microphthalmia
- heart malformations
- abdominal wall defects
- cutis aplasia
Trisomy 13 (Patau)

What is the recurrence risk for the next pregnancy?
A baby is born with:
** cleft lip
** postaxial polyactaly of limbs
** holoprosencephaly
** hypolastic or absent ribs
** GU anomalies
- microphthalmia
- heart malformations
- abdominal wall defects
- cutis aplasia
Recurrence risk <1% for mother < 35%
(relatively) rarest of trisomies
- long faces
- high forehad
- thick, evereted lower lip
** deep palmar and sole creases
- low set ears
- bone, joint, renal malvormations
- increased risk of AML at older ages
Mosiac Trisomy 8
** Greek helmet facies (ocular hypertelorism, prominent glabella, frontal bossing)
- growth deficiency
- microcephaly
- beaked nose
- HTN
- short philtrum
- hypotonia
- congenital cardiac anomalies (50%)
- seizures (90%)
4p-
Wolf-Hirschhorn Syndrome
You are called to the nursery to see a microcephalic, hypotonic baby that has a "Cat's cry" and high arched palate -- what is the deletion/syndrome and where is the anatomic variation leading to thise cry?
5p-
Cri-du-Chat syndrome
Larynx... what are the characteristis of this syndrome?
You are called to the nursery to see a microcephalic, hypotonic baby that has a "Cat's cry" and high arched palate -- what is the deletion/syndrome and where is the anatomic variation leading to thise cry?
- Moon face w/telecanthus
- down-slanting palpebral fissures
- hypotonia
- short stature
- microcephaly
- high-areched palate
- wide and flat nasal bridge
- mental retardation
You are seeing a new clinic patient -- mom states that he has developmental delays (MR), when look at the OFC he is microcephalic and then on physical you note
** atretic ear canals
- depressed midface
- protruding mandible
- deep set eyes
- evereted low
De Grouchy Syndrome
what is this syndrome due to?
You are seeing a new clinic patient -- mom states that he has developmental delays (MR), when look at the OFC he is microcephalic and then on physical you note
** atretic ear canals
- depressed midface
- protruding mandible
- deep set eyes
- evereted low
Deletion of long arm of chromo 18
18q-
You are seeing a young lady in clinic and you note she has inappropriate bouts of alughter and:
- jerky ataxic movements
- characteristic gait
- hypotonia
- facial hair
- midface hypoplasia
- Prognathism (lg chin, mandible)
** seizures
** severe MR
- abse
Angelman Syndrome
15q11-13

Is this microdeletion maternally or paternally derived?
You are seeing a young lady in clinic and you note she has inappropriate bouts of alughter and:
- jerky ataxic movements
- characteristic gait
- hypotonia
- facial hair
- midface hypoplasia
- Prognathism (lg chin, mandible)
** seizures
** severe MR
- abse
Maternally
What is the inheritance pattern?
AD
How many abnormal copies does the affected person have?
What is the risk of passing it on?
Is it vertical, horizontal or other inheritance?
What is the inheritance pattern?
need one copy of abnormal allele, risk of passing on 50%, vertical inheritance
What is the following inheritance pattern?
AR
How many abnormal copies does the affected person have?
What is the risk of passing it on?
What is the risk of expression?
What is the following inheritance pattern?
need both copies of abnormal allele, risk of passing on 50%, expressing 25%
What in utero drug exposure do you suspect?
Thalidomide
What in utero drug exposure do you suspect?
Limb defects, ear malformations, deafness w/ exposure at 34-50 days gestation
What in utero drug exposure do you suspect?
- microcephaly
- DD
- absent philtrum, mid face hypoplasia, thin upper lip, etc
Alcohol
What in utero drug exposure do you suspect?
- microcephaly
- DD
- absent philtrum, mid face hypoplasia, thin upper lip, etc
- Dx requires known use w/ preg, need 2,1,1 in following categories
- Facial – absent philtrum, mid face hypoplasia, thin upper lip, etc
- Growth – microcephaly, wt <10%, lenth/ht ratio <10%
- Cognition – DD or hearing problems
There is an infant born with periventricular calcifications, MR, microcephaly, hearing loss, low birth weight - what in utero infection do you suspect?
CMV
You are asked what syndrome this kid has:
** Severe hypotonia
- h/o FTT --> obesity
*** Small hands/feet
- Hypogonadism
- mild MR
.... what test do you order to detect the deletion?
fluorescent in situ hybridization
.... how is it inherited maternally or paternally?
You are asked what syndrome this kid has:
** Severe hypotonia
- h/o FTT --> obesity
*** Small hands/feet
- Hypogonadism
- mild MR
.... what test do you order to detect the deletion?
paternally
Prader-Willi 15q11-13
You see a baby who is born with cleft palate, small chin, abnomral ears and TOF, (hypotonic on exam) what syndrome do you suspect?
What is the deletion?
22q11.2
DiGeorge Syndrome
Shprintzen syndrome
Velocardiofacial Sndrome
CATCH 22
What cardiac abnormalities are seen in 22q11.2
TOF > interrupted aortic ard > VSD > Truncus arteriosus
What does CATCH 22 stand for?
*Cleft palate
*Absent *Thymus
*Congenital *Heart Disease
22q11.2
What does CATCH 22 stand for?
small chin, cleft palate, abnomral ears
What are some characteristics of DiGeorge Syndrome?
- Cleft palate
- velopharyngeal incompetence (VPI)
- Thymus ageneis or hypoplasia
** immune deficiencies
- parathyroid gland hypoplasia/ agenesis
** hypocalcemia
- hypoplasia of aurice and external audiotry canal
**** Cardiac abnormalities
- short stature
- behavior problems
What are some characteristics of DiGeorge Syndrome?
3rd and 4th pharyngeal pouches
A new tall young patient with gynecomastia, delayed maturation and small testes asks you whether he will be able to reproduce?.... you also suspect he has what syndrome
Infertile
Klienfelter syndrome
what is the cause of this extra X and who is it inherited from?
A new tall young patient with gynecomastia, delayed maturation and small testes asks you whether he will be able to reproduce?.... you also suspect he has what syndrome
Maternal, meiotic nondisjunction
Describe a girl with Turner Syndrome:
** phenotypically female
** short stature
** ovarian falure/gonadal dysgenesis
** Lack of sexual development
..... describe an infant:
Describe a girl with Turner Syndrome:
** Webbed neck (cystic hygroma)
** Posteriorly rotated ears
** lymphedema of hands and feet
** Cubitus Valgus
Bonus: What type of tumor are Turner syndrome girls at risk for?
Gonadoblastoma
Why?
Bonus: What type of tumor are Turner syndrome girls at risk for?
5-10% have some Y chromosome maternal in all or some cells
What is the cardiovascular anomaly associated with Turner?
** Bicuspid aortic valve (15-20%)
What are some commonly associated disorder sin childhood or adulthood associated with Turner Syndrome?
** Hashimoto's thyroiditis
** Alopecia
** Carbohydrate intolerance
** Vitiligo
** GI disorders
Name 3 AD craniofacial syndromes:
- Treacher-collins
- Alagille
- Waardenbern Syndrome I
- Beckwith-Wiedmann
- Cornelia de Lange
- Sticker Syndrome with Pierre Roban
- Cruzon
- Apert
- Cleidocranial Dystosis
- NFT1
Name 3 AD craniofacial syndromes:
Basically all are AD except Sturge-Webber = sporadic
Name 4 syndromes associated with short stature:
- De Lange
- Dubowitz
- Noonan
- WIlliams
What 4 syndromes have upper extremity defects and heme abnormalities?
- Faconi Anemia
- Diamond-Blackfan
- TAR (Thrombocytopenia-absent Radius)
- Holt-Oram
What is the inheritance pattern of this syndrome:
- Multiple bony fibrous dysplasia
- Cafe-au-lait spots
- sexual precocity
Sporadic

What is the syndrome?
What is the inheritance pattern of this syndrome:
- Multiple bony fibrous dysplasia
- Cafe-au-lait spots
- sexual precocity
McCune-Albright
What is the inheritance pattern of this syndrome:
- Hypertelorism
- telecanthus
- high nasal bridge
- cleft lip/palate
- hypospadias
- laryngotrachealesophageal cleft
XD/AD

What is the syndrome?
What is the inheritance pattern of this syndrome:
- Hypertelorism
- telecanthus
- high nasal bridge
- cleft lip/palate
- hypospadias
- laryngotrachealesophageal cleft
Opitz Syndrome (GBB Syndrome)
What is the inheritance pattern of this syndrome:
- Mullerian duct aplasia
- renal aplasia
-cervicothoracic somte dysplasia
Sporadic

What is the syndrome?
What is the inheritance pattern of this syndrome:
- Mullerian duct aplasia
- renal aplasia
-cervicothoracic somte dysplasia
MURCS
What is the inheritance pattern of this syndrome:
- Coloboma
- congenital heart defects
- choanal atresia
- growth and mental retardation
- GU anomalies (hypogonadism)
- Ear anomaly
CHD7 on Chr 8q

What is the syndrome?
What is the inheritance pattern of this syndrome:
- Coloboma
- congenital heart defects
- choanal atresia
- growth and mental retardation
- GU anomalies (hypogonadism)
- Ear anomaly
CHARGE
What is the inheritance pattern of this syndrome:
- Vertebral defects
- anal atresia
- TE fistula
- radial dysplasia
- renal malformations
- congenital heart defect
Sporadic

What is the syndrome?
What is the inheritance pattern of this syndrome:
- Vertebral defects
- anal atresia
- TE fistula
- radial dysplasia
- renal malformations
- congenital heart defect
VATER
You have a patient with progressive neurological deterioration, spare broke hair (pili torti), skeletal change and -(inc or dec)- serum copper and ceruloplasim
Menkes Syndrome

decreased serum copper and ceruloplasim

How is it inherited?
You have a patient with progressive neurological deterioration, spare broke hair (pili torti), skeletal change and -(inc or dec)- serum copper and ceruloplasim
X-linked
You see a child with a cholesterol metabolism defect, cryptoorchidism, hypospacias and syndactyly of toes 2,3 - what syndrome do you suspect? What other characteristics do you anticipate?
Smith-Lemil-Optiz
- short stature
- microcephaly
- ptosis
-anteverted nares
- MR
.... who is it inherited?
You see a child with a cholesterol metabolism defect, cryptoorchidism, hypospacias and syndactyly of toes 2,3 - what syndrome do you suspect? What other characteristics do you anticipate?
AR
You note a patient has an abnormal eye exam with odd looking rings. Which metal do you suspect is being abnormally metabolized?
What disease/syndrome do you suspect?
What are these rings called?
abnormal Copper metabolism
Wilson Disease
Kayser-Fleisher rings
.... how is it inherited?
You note a patient has an abnormal eye exam with odd looking rings. Which metal do you suspect is being abnormally metabolized?
What disease/syndrome do you suspect?
What are these rings called?
AR
What AR syndrome is associated with encephalocele and polycystic (dysplastic) kidneys?
Meckel-Gruber
What AR syndrome is associated with encephalocele and polycystic (dysplastic) kidneys?
Lethal
Polydactaly
microcephaly
What kind of abd defect is seen with Beckwith-Wiedmann Syndrome?

What type of tumor is seen?
Omphalocele

Wilms Tumor
Name 4 genetic syndromes associated with short stature:
- De Lange
- Dubowitz
- Noonan
- WIlliams
There is a baby born with:
- IUGR
- Microcephaly
- Hirsutism
- Downturned mouth
- heart defects
What genetic syndrome do you suspect?
De Lange Syndrome

What is the inheritance pattern?
There is a baby born with:
- IUGR
- Microcephaly
- Hirsutism
- Downturned mouth
- heart defects
What genetic syndrome do you suspect?
Sporadic
There is a baby born with:
- IUGR
- telecanthus
-ptosis
- eczema
- hypotrichosis
- behavior and developmental disorder
What genetic syndrome do you suspect?
Dubowitz Syndrome

What is the inheritance pattern?
There is a baby born with:
- IUGR
- telecanthus
-ptosis
- eczema
- hypotrichosis
- behavior and developmental disorder
What genetic syndrome do you suspect?
AR
You see a child with:
- short stature
- PULMONARY valve stenosis
- pectus excavatum
- webbed neck
- hypertelorism
- lymphedema
- bleeding diathesis
What genetic syndrome do you suspect?
Noonan Syndrome

What is the inheritance pattern?
You see a child with:
- short stature
- PULMONARY valve stenosis
- pectus excavatum
- webbed neck
- hypertelorism
- lymphedema
- bleeding diathesis
What genetic syndrome do you suspect?
AD
You are seeing a child with:
- growth delay
- MR
- stellate iris
- hypoplastic nails
- periorbital fullness
- anteverted nares
- supervalvular aortic stenosis
What syndrome do you suspect?
Williams syndrome

What is the inheritance pattern?
You are seeing a child with:
- growth delay
- MR
- stellate iris
- hypoplastic nails
- periorbital fullness
- anteverted nares
- supervalvular aortic stenosis
What syndrome do you suspect?
Sporadic
7q-
What cardiac defect is seen in Noonan Syndrome?
Pulmonary valve stenosis
What cardiac defect is seen in Williams Syndrome
Supravalvular aortic stenosis
You see a child with an ataxic gait, h/o frequent infections, growth failure and multiple telangiecatasia, malignancies, worsening CNS function - what syndrome do you suspect?
Ataxia-telangiecatasia

What is the inheritance pattern?
You see a child with an ataxic gait, h/o frequent infections, growth failure and multiple telangiecatasia, malignancies, worsening CNS function - what syndrome do you suspect?
AR
You see a child with skin atrophy, pigmentary changes, photosensitivey with maligancies - what syndrome do you suspect?
Xeroderma Pigmentosa

What is the inheritance pattern?
You see a child with skin atrophy, pigmentary changes, photosensitivey with maligancies - what syndrome do you suspect?
AR
You see a child with: IUGR, microcephaly, malar hypoplasia, faical telangiectasia, and malignancies
- what syndrome do you suspect?
Bloom Syndrome

What is the inheritance pattern?
You see a child with: IUGR, microcephaly, malar hypoplasia, faical telangiectasia, and malignancies
- what syndrome do you suspect?
AR
You see a child with pancytopenia, hypoplastic thumb and radius, hypermigmentation and abnomal facial features
- what syndrome do you suspect?
Faconi Anemia

What is the inheritance pattern?
You see a child with pancytopenia, hypoplastic thumb and radius, hypermigmentation and abnomal facial features
- what syndrome do you suspect?
AR
What syndrome is associated with a Poland anomaly? And what is a Poland anomaly
Möbius Syndrome

Absence of pectorialis major/minor muscles
Describe the feature of Möbius Syndrome and what is the inheritance pattern?
- Cranial nerve abormalities
- hypoplastic tongue/digits
- limb defects
- Poland anomaly
- iplsilateral breast hypoplasia (basence of 2-4 rib segments)
- Sporadic
What syndrome is associated with:
- microcephaly
- short stature
- beaked nose
* broad thumbs and great toes
- congenital heart disease
- mental retardation
Rubinstein-Taybi Syndrome

What is the inheritance pattern?
What syndrome is associated with:
- microcephaly
- short stature
- beaked nose
* broad thumbs and great toes
- congenital heart disease
- mental retardation
AD - microdeletion
You see a child with a prominent forehead, macrocephaly, hyperteloism, mental retardation, large hands/feet and h/o LGA
- What syndrome do you suspect?
Sotos Syndrome

What is the inheritable pattern?
You see a child with a prominent forehead, macrocephaly, hyperteloism, mental retardation, large hands/feet and h/o LGA
- What syndrome do you suspect?
AD
See you a baby with coarse facies, macroglssia, ear lobe creases, posterior aricular pits, omphalocele, abdominal mass (wilms turmor), cryporchidism and hemihypertrophy
- What syndrome do you suspect?
Beckwith-Wiedmann Syndrome

What is the inheritable pattern?
See you a baby with coarse facies, macroglssia, ear lobe creases, posterior aricular pits, omphalocele, abdominal mass (wilms turmor), cryporchidism and hemihypertrophy
- What syndrome do you suspect?
AD
See you a baby with macrodactyly, soft tissue hypertrophy, hemihypertrophy, nevi, lipomas, lymphangiomata, hemangiomata and accelerated growth
- What syndrome do you suspect?
Proteus Syndrome
See you a baby with macrodactyly, soft tissue hypertrophy, hemihypertrophy, nevi, lipomas, lymphangiomata, hemangiomata and accelerated growth
- What syndrome do you suspect?
Sporadic
Name 2 syndromes with hemihypertrophy?
Beckwith-Wiedmann
Proteus
What are some metabolic syndromes with associated congenital anomalies?
- Menkes
- Zellweger
- Glutaric Acidemia Type II
- Smith-Lemli-Opitz
- WIlson
- Kallman
What syndrome is associated with:
- short stature
- MR
- hypogonadotropic hypogonadism
- anosmia
Kallman Syndrome

What is the inheritance pattern?
What syndrome is associated with:
- short stature
- MR
- hypogonadotropic hypogonadism
- anosmia
X-linked
What syndrome is associated with:
- Hepatomegaly
- facial dysmorphism
- renal cysts
GU anomalies
Glutaric Acidemia Type II

What is the inheritance pattern?
What syndrome is associated with:
- Hepatomegaly
- facial dysmorphism
- renal cysts
GU anomalies
AR
What syndrome is associated with:
- hypotonia
- flat occiput
- epicanthal folds
- hepatomegaly
- camptodactyly
- cerebral defects
- retinal lesions
- renal cysts
- peroxisomal defects
Zellweger Syndrome

What is the inheritance pattern?
What syndrome is associated with:
- hypotonia
- flat occiput
- epicanthal folds
- hepatomegaly
- camptodactyly
- cerebral defects
- retinal lesions
- renal cysts
- peroxisomal defects
AR
You see a patient with:
- pancytopenia
- hypoplastic thumb and radius
- hyperpigmentation
- abnormal facial feature
What Syndrome do you suspect?
Fanconi Anemia

What is the inheritance pattern?
You see a patient with:
- pancytopenia
- hypoplastic thumb and radius
- hyperpigmentation
- abnormal facial feature
What Syndrome do you suspect?
AR
You see a patient with:
- triphalangeal thumb
- radial hypoplasia
- hypoplastic anemia
- congeintal heart defects
What Syndrome do you suspect?
Diamond-Blandfan Syndrome

What is the inheritance pattern
You see a patient with:
- triphalangeal thumb
- radial hypoplasia
- hypoplastic anemia
- congeintal heart defects
What Syndrome do you suspect?
AD
You see a patient with:
- Radial ray abnormalities (triphalangeal thumb)
- ASD and other congential heart disease
What Syndrome do you suspect?
Holt-Orham Syndrome

What is the inheritance pattern
You see a patient with:
- Radial ray abnormalities (triphalangeal thumb)
- ASD and other congential heart disease
What Syndrome do you suspect?
AD
You see a patient with:
- thrombocytopenia
- absent Radii
- normal thumbs
- petechiae
What Syndrome do you suspect?
TAR = Thrombocytopenia-Absent Radius Syndrome

What is the inheritance pattern
You see a patient with:
- thrombocytopenia
- absent Radii
- normal thumbs
- petechiae
What Syndrome do you suspect?
AR
You see a patient with:
- cleft palate
- malar hypoplasia
- micrognathia
- lower eyelid missing medial lower lashes
- hearing loss
What syndrome do you suspect?
Treacher-Collins Syndrome

What is the inheritance pattern?
You see a patient with:
- cleft palate
- malar hypoplasia
- micrognathia
- lower eyelid missing medial lower lashes
- hearing loss
What syndrome do you suspect?
AD
You see a patient with:
- Partial Albinism
- White forelock
- premature graying
- telecanthus
- heterochromia of iris
- cleft lip/palate
- cochlear deafness
- occasional absent vaginal
- occasional Hirschspring disease
What syndrome do you suspect?
Waardenbern Syndrome I

What is the inheritance pattern?
You see a patient with:
- Partial Albinism
- White forelock
- premature graying
- telecanthus
- heterochromia of iris
- cleft lip/palate
- cochlear deafness
- occasional absent vaginal
- occasional Hirschspring disease
What syndrome do you suspect?
AD
You see a patient with:
- hemangioma in trigeminal nerve distribution
- glacoma
- seizures
- meningeal hemangiomata
- lower eyelid missing medial lower lashes
- hearing loss
What syndrome do you suspect?
Sturge Webber

What is the inheritance pattern?
You see a patient with:
- hemangioma in trigeminal nerve distribution
- glacoma
- seizures
- meningeal hemangiomata
- lower eyelid missing medial lower lashes
- hearing loss
What syndrome do you suspect?
Sporadic
You see a patient with:
- Micro-brachycephaly
- micrognathia
- low hair line
- synophrys
- long eyelashes
- thin upper lip
- low set ears
- micromelia (hand/feet) or phocomelia
- 2,3 syndactaly of toes
- growth retardation
What syndrome do you suspect?
Cornelia de Lange

What is the inheritance pattern?
You see a patient with:
- Micro-brachycephaly
- micrognathia
- low hair line
- synophrys
- long eyelashes
- thin upper lip
- low set ears
- micromelia (hand/feet) or phocomelia
- 2,3 syndactaly of toes
- growth retardation
What syndrome do you suspect?
AD; 50% have NIPBL gene mutation
You see a patient with:
- micrognathia
- cleft palate
- glossoptosis
- airway obstruction
- feeding difficulty
What syndrome do you suspect?
Stickler Syndrome w/ Pierre Robin Sequence

What is the inheritance pattern?
You see a patient with:
- micrognathia
- cleft palate
- glossoptosis
- airway obstruction
- feeding difficulty
What syndrome do you suspect?
AD
You see a kid with craniosynostosis, proptosis, hypertelorism, strabismus, maxillary hypoplasia -- what syndrome do you susupect?
Cruzon

AD
You see a kid witih the craniosynostosis, syndactly, boad thumbs, single nails and narrow palate -- what syndrome do you suspect?
Apert

AD
You see a kid witih the craniosynostosis, syndactly, boad thumbs, single nails and narrow palate -- what syndrome do you suspect?
brachycephaly, acrocephaly, hypertelorism, proptosis, strabismus, maxillary hypoplasia, commonly complete fusion of 2, 3, 4
You see a kid with delayed eruption of teeth, absent/hypoplastic clavicles and wormian bones -- what syndrome do you susupect?
Cleidocranial Dyostosis

AD
You see a kid with delayed eruption of teeth, absent/hypoplastic clavicles and wormian bones -- what syndrome do you susupect?
Brachycephaly, frontal bossing, supernumerary and fused teeth, joint laxity
You see a kid with
- neurofibromas
- lisch nodules
- macrocephaly
- learning disibilities
- plexiform neurofibroma
- dysplasia of the sphenoid bone
- malignanes (<5%)

What syndrome do you susupect?
Neurofibromatosis Type I

What is the inheritance pattern?
You see a kid with
- neurofibromas
- lisch nodules
- macrocephaly
- learning disibilities
- plexiform neurofibroma
- dysplasia of the sphenoid bone
- malignanes (<5%)

What syndrome do you susupect?
AD
What maternal/in utero infection do you suspect if you see:
** hydrops
Parvo B19

between 10-24 weeks --> 7-10% risk of CHF and death
What maternal/in utero infection do you suspect if you see:
- chorioretinitis
- skin scarring
- DD
- microcephaly
varicella
What maternal/in utero infection do you suspect if you see:
** periventrical calcifications
CMV
What maternal/in utero infection do you suspect if you see:
** periventrical calcifications
low birth weight, MR, microcephaly, hearing loss after the neonatal period
What maternal/in utero infection do you suspect if you see:
** abnormal teeth and bones
** MR
- proteinuria
Syphilis

Esp after 5 months gestation
What maternal/in utero infection do you suspect if you see:
- hydrocephalus
- blindness
- MR
... infection occured between 10-24 weeeks of gestation
Toxoplasmosis
What is the frequence of freal infections from mothers ith rubella during the first trimester?
50%
if a rubella infection occurs during the first 8 weeks what do you exect to see in the infant?
Deafness -- 85%
if a rubella infection occurs during week 9-12 what do you exect to see in the infant?
Cararacts -- 52%
if a rubella infection occurs during week 12-30 what do you exect to see in the infant?
Heart defects -- 16%
Extensive hyperthermia for prolonged periods during days 14-30 post conception increase the risk of:
Neural Tube deffects
SLE is associated with an increased risk of _____ before 20 weeks and increased risk of stillbirth, prematury and ______ after 20 weeks
Spontaneous abortion <20 weeks

** congenital heart block > 20 weeks
HTN is associated with an increased risk of _____ before 20 weeks and ___, ___, ___ after 20 weeks
<osscarroage <20 weeks

** IUGR, placental insufficiency, placental abruption or previa > 20 weeks
What defects are associated with maternal diabetes?
** sacaral agenesis
** situs abnomalitis
** holoprosencphaly
** congenital heart disease
how does murcery poisoning manifest in a fetus?
- cerebral atrophy
- seizures
- DD
You see a newborn who is jittery, irritable, termulous with muscle rigidity - what chronic in utero exposure do you suspect? Will there be long term effects from this exposure?
Cocaine - no

use during early pregnacy is associated with increased risk of?
You see a newborn who is jittery, irritable, termulous with muscle rigidity - what chronic in utero exposure do you suspect? Will there be long term effects from this exposure?
miscarriage, stillbirth and premature delivery
Cigarette smoking has a high association with?
LOW birth weight
What is the most frequent documented cause of MR
Fetal alcohol syndrome
Wha are the 3 catagories of findings in children with fetal alcohol syndrome?
** Facial (2 from this category)
** pre- or postnatal growth deficiency
** cognitive abnormality
Describe some of the facial features you might observe in a FAS child (4-8 yrs of age)
- Shortened palpebral fissures
- epicanthal folds
- hypoplastic nasal root
- short upturned nose
- hypoplastic or absent philtrum
- thin upper lip
- mid face hypoplasia
If a mom is exposed to ________ at 15-29 days after conception, you would expect to see spina bifida
Carbemazepine

<1% risk
If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Limb defects, craniosynostosis, craniofacial abnormalities
Methotrexate
If a mom is exposed to ________ during the 2nd-3rd trimester, you would expect to see Renal dysgenesis, oligohydramnios, skull defects
ACE inhibitors
If a mom is exposed to ________ at <12 weeks gestation, you would expect to see Vaginal adenocarcinoma, uterine abnormalities
DES
If a mom is exposed to ________ at <8 wks gestationn, you would expect to see Ebstein anomaly
Lithium

<1%
If a mom is exposed to ________ at 15-29 days gestation, you would expect to see spina bifida
Carbemazepine

<1% risk
If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Limb defects, craniosynostosis, craniofacial abnormalities
Methotrexate
(> 10 mg/week)
If a mom is exposed to ________ during the 2nd-3rd trimester, you would expect to see Renal dysgenesis, oligohydramnios, skull ossifcation defects
ACE inhibitors
If a mom is exposed to ________ at <12 weeks gestation, you would expect to see Vaginal adenocarcinoma, uterine abnormalities, male infertility
DES
If a mom is exposed to ________ at <8 wks gestationn, you would expect to see Ebstein anomaly
Lithium

<1%
If a mom is exposed to ________ , you would expect to see growth deficiencies, DD, hypoplastic halanges/nails, craniofacial abnorm, vit K deficieny --> bleeding problems
Phenytoin

FHS: fetal hydantoid syndrome
30% risk of having some adverse effect
If a mom is exposed to ________, you would expect to see growth defects, DD, hypoplastic nails, craniofacial abnormalitis
Phenytoin

Fetal hydantoin syndrome
If a mom is exposed to ________ , you would expect to see Microcephaly, microtia, external auditory canal anomalies facial nerve palsies, CV defects, thymic & GU defects (similar to DiGeorge)
Retinoic Acid
If a mom is exposed to ________ in the 3rd trimester, you would expect to see Hearing loss
Streptomycin
If a mom is exposed to ________ after 20 weeks gestation, you would expect to see Bone & teeth staining
Tetracycline
If a mom is exposed to ________ during the first 30 days gestation, you would expect to see Spina bifida
Valproic Acid

2% risk
If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Nasal hypoplasia, stippled epiphysis
Warfarin

risk is 30% of exposed pregnancies will develop fetal warfarin syndrome (CNS defects or spontaneous abortion)
Who has a greater risk of having another child with Down syndrome?
- a young woman who is a balanced translocation carrier

- a middle-age woman
is greater for a young woman who is a balanced translocation carrier
- Age <35 – risk is 1%
- Age >35 – risk is age related
- Translocation – father 1-2%, mother 10-15%
If a mom is exposed to ________ during the first trimester, it can result in craniofacial abnormaliteis and preaxial defects
Valproic acid
If a mom is exposed to ________ at 34-50 days of gestation, you would expect to see limb defects (missing arms/legs), ear malformations with deafness
Thalidomide

20% Risk
An infant with cleft lip/palate typically has ______________ and _____________ problems at birth.
Airway management
feeding problems
An child with cleft lip/palate are at risk for ___________ and ___________
Recurrent Otitis media
persistent middle ear effusions
In Pierre-Robin sequence, the primary embrylogical defect is related to _______________ which leads to displacement of the tongue, interrupted closure of the lateral palatine ridge and cleft palate
Mandibular hypoplasia
what anomalies will you see in children with hemifacial microsomia?
- external ear anomalies (microtia, blind/absent external auditory ear canal, anotia, canal atresia, prearicular tags)
- maxillary / mandibular malformation
- cervical vertebral anomalies (1/3)
- Cardiac anomalies
- renal in 15% of those w/ear malformations
What is the main difference between goldenhar syndrome and hemifacial microsomia?
Goldenhar syndrom has epipulbar dermoids present
What are the characteristic findings of Goldenhar syndrome?
- hemifacial microsomia plus:
- epipulbar dermoids
- VDS/outflow track malformation
- conductive hearing loss
What is BOR syndrome?
Branchio-Oto_renal
- brachial cleft fistulas/cysts
- prearicular pits
- cochlear and stapes malformations
- mixed sensory / conductive hearing loss
- renal dysplasia/ aplasia
- AD
- sometimes pulm hypoplasia
What is the most common single suture fusion in craniosynostosis?
Sagittal
coronal > metopic > lamboid
What shape head would you expect to see with the early fusion of the sagittal suture?
* long narrow head shape
= scaphocephaly
- excessive AP growth
What shape head would you expect to see with the early fusion of the coronal and sphenofrontal suture?
- unilateral flattening of forehead
- elevation of ipsilateral orbit and eyeborw
- prominent ear on affect side
= frontal plagiocephaly
- more common in girls
What shape head would you expect to see with the early fusion of the metopic suture?
- keep-shaped forehead
- hypotelorism
= trigoncephaly
What shape head would you expect to see with the early fusion of the coronal, sphenofrontal AND frontoethmoidal sutures?
- cone head
= turricephaly
What is the most common skeletal dysplasia?
1/10k live births
Achondroplasia
What skull structural abnormality may occur in infants with achondroplasia?
** Foramen magnum stenosis
** craniocervical junction abnormalities
What are the common findings in achondroplasia?
** disproportinately short stature with rhizomelic shortening
** trident hands,
** macrocephaly
** characterisitc facial: flat nasal bridge, prominent forehead, midface hypoplasia
How is achondroplasia inherrited? and what gene is typically mutated?
** new mutation - rate increases with advancing --paternal-- age
- AD
- FGFR3 de novo mutation
(fibroglast growth factor receptor 3, chromo 4p16.3 - gain of fucntion mutation)
Describe a child with Osteogenesis imperfecta type I
** mildest and most common type
- Blue scleara (do not change with age, unlike type III)
- delayed fontanelle closure
- hyperextensible joints
- hearing loss
- stature - usually near norm
** multiple fractures (before puberty)
- fx rarely at birth
What syndrome do you see a "cloverleaf" skull and straight femurs?
Thanatophoric dysplaia type II

(short limbs, platospondyly, flared metaphyses of long bones, short ileac bones; curved femur vs type 2 with straight femur)
What type of OI is the most severe form?
Type II --> death during newborn period due to resp insuff
What type of OI do you see neuro complications?
Type III
- hydrocephalus
- basilar skull invgination
- presents in newborn with numerous fx
- used to be called progressively deformting type
- short stature is sever
- blue scleara at birth - lighten with age
- COLIA1 point mutation
What is the hallmark of Type IV OI and what are the classic sclearl findings?
** Tibial bowing
** scleara are ususally white or near white
- COLIA2 point mutation
What are the classic findings in a patient with Marfan Syndrome?
** high arched palate
** dislocataed lens
** pectus carinatum or excavatum
** MVP
What is the most common cause of death in a Marfan syndrome patient?
** Cardiac complications
** aortic root dilation and rupture
** annual or semi-annual echos
How do you diagnosis Marfan?
- gene test FBN1
* Clinical findings:
- no 1st degree relative 2 major and 1 minor (3 organ systems)
- 1st degree relative, 1 major and 1 minor (2 organ systems)
What disorder should you rule out that has many features similar to Marfan syndrome?
Homocystineuria
- check for absence of homocystine in urine
What are the classic findings in a patient with Ehlers-Danlos Syndrome?
** hyperextensible skin
* hypermobile joints - large and small joints
* easy brusing - norm coags but abnorm capillary fragility testing
* dystrophic scaring - thin and shiny, pseudotumros at elbows, heels and knees from scarring
** classic skin findings: texture of wet chamois or fine sponge, extra skin over hands, feet, stomach, very stretchy skin but fragile with splitting, skin with fish mouth appearance at tear
- MVP and proximal aortic dilitation
What is the most common neurocutaneous disease that affects 1/2000?
Neurofibromatosis type 1
(formally von Recklinghausen disease)
How do you diagnosis NFT?
2 of 7:
** ≧ 6 cafe-au-lait > 0.5 cm diameter in prepubertal and > 1.5 cm in post-pubertal
- ≧ neurofibromas of any type of 1 plexiform or neurofibroma
- freckling in axiallary or inguinal areas
- optic glioma
*** ≧ 2 Lisch nodules (iris hartomas 75% of prepubescent)
- sphenoid dysplasia or thinning long bone cortax
- 1st degree relative with NFT type 1
What are the classic skin findings in NFT type 1
** cafe-au-lait
- benign cutaneous neurofibromas
How does NFT appear in a population in > 50% of cases?
** 60% sporadic or de novo AD mutation

- chromo 17
How does NFT type 2 different form NFT type 1?
** b/l vestiblualr schwannomas = acoustic neuromas --> hearning loss, tinnitus, imbalance, facial weakness
- AD, chromo 22
- avg age of presentation is 30
What are the skin findings tuberous sclerosis?
** Ash-leave hypopigmented macules (90% of cases) - wood's lamp
** Shagreen patches
- facial angoimas
- forehead plaques
- ungual and gingival fibromas
- polycystic kidney disease (TSC2 - chromo 16)
What cardiac tumors are common in infants with TS?
** Cardiac rhabdomyomas (50%)
What are the 2 major management areas in patients with TS?
** seizures - infantile spasms (tx: vigabatrin)
** cardaic arrhythmias assoiciated with cardiac rhadomyomas
What tumors are common seen in patients with von Hippel-Landau sundrome?
** hemangioblastomas
- classic is cerebellar hemangioblastomas in adolescence or retinal angioma by age 10
- benign and malignant tumors of yes, CNS, kidneys (renal cell ca presents in 40s and leading cause of mortality ~40%), pancreas, adrenal and reproductive adrenal glands
How do you Dx von Hippel-Landau sundrome?
** 2 ore more hemangioblastomas in the CNS (cerebellum) or retina
** OR -- 1 single hemangioblastomas with either:
- pheochromocytomas
- endolymphatic sac tumor
- cyst in kidney/pancreas
- renal cell Ca
- pancrease invlvment, neuroendocirne tumor
** OR -- 1st degree relative and and 1 manifestation
How is von Hippel-Landau sundrome inherrited?
- AD, highly penetrant
- VHL gene mutation - tumor suppressor gene on chromo 3
- 1/36k
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