Review.docx - Marfan Syndrome Etiology autosomal dominant...

This preview shows 1 out of 3 pages.

Marfan Syndrome Etiology: autosomal dominant , hereditary or non-hereditary (mutation) r/t connective tissue S/S: long arms/legs/fingers (tall/thin), aortic dissection , asthma, myopia, chest sinks in/out Nursing care: mgmnt w/ glaucoma, cataract, beta blocks or ARBs, cardiac surgery, pain mgmnt CHARGE Syndrome Etiology: mutation to CDH7 gene causing at least 4 of 6 sx S/S: Coloboma of eye (hole), Heart defects, Atresia of the choanae (nasal blockage), Retarded/delayed growth, Genital hypoplasia (UTIs), Ear abnormalities (hearing defects) Nursing care: aspiration risk, GERD, airway compromise, ear infx, chronic constipation, scoliosis, blindness, sinusitis, heart disease Prader-Willi Syndrome Etiology: nonfunctional parts of chromosome 15; non-hereditary S/S: weak muscles (hypotonia), poor feedings (asphyxia), delayed dev, learning difficulties, increased fat mass Nursing care: mgmnt failure to thrive r/t poor feeding – GI placement; muscle exercise, high pain threshold (educate), behavior mgmnt w/t learning + comm difficulties Neurofibromatosis Etiology: autosomal dominant; two types: NF1- tumors in peripheral nervous tissue; NF2- tumors of schwann cells S/S: NF1- café au lait spots , freckling, lisch nodules (tiny bumps on iris), neurofibromas (soft bumps under skin), bone deformities, optic nerve tumor, large head + short, learning disabilities, hydrocephaly; NF2- tumors on cranial nerve 8 – hearing loss , tinnitus, poor balance, HA, possible bumps under skin, possible visual impairment Nursing care: monitor/educate on tumor growth, surgical removal of obstructive/malignant tumors, neuro assessment, visual/acoustic monitoring; NF2- facial palsy (minced food), eyelids may not fully close, cognitive support Down Syndrome (Trisomy 21) Etiology: x3 chromosome 21 r/t chromosome pairs not separated during meiosis of sperm/ovum; non- hereditary S/S: small abnl shaped head, decreased muscle tone, small ears/mouth, impulsive, slow learning Nursing care: monitor ability to swallow + nutrition, educate family, social support, exercise Edwards Syndrome (Trisomy 18) Etiology: x3 chromosome 18 S/S: ventricular or atrial septal defect (hole btwn ventricles or atria), microcephaly, delayed growth, strawberry shaped head, esophageal atresia (esophagus does not connect to stomach), kidney problems, clenched hands Nursing care: psychosocial support, NG or G-tube, monitor heart, tx infections, pain mgmnt
Image of page 1

Subscribe to view the full document.

Growth and Development Growth - Increase in physical size Development - Sequential process by which infants and children gain various skills and functions Maturation - Increase in functionality of various body systems or developmental skills Infant (1 mo-12 mo) Growth: Posterior fontanel closes by 6-8wks Anterior fontanel closes by 12-18 mo Weight: gain 680g (1.5lb)/mo first 5 mo; birth weight double by 5 mo; avg 16 lb for 6 mo old Height: grow 2.5 cm (1 in)/mo first 6 mo
Image of page 2
Image of page 3
You've reached the end of this preview.

{[ snackBarMessage ]}

What students are saying

  • Left Quote Icon

    As a current student on this bumpy collegiate pathway, I stumbled upon Course Hero, where I can find study resources for nearly all my courses, get online help from tutors 24/7, and even share my old projects, papers, and lecture notes with other students.

    Student Picture

    Kiran Temple University Fox School of Business ‘17, Course Hero Intern

  • Left Quote Icon

    I cannot even describe how much Course Hero helped me this summer. It’s truly become something I can always rely on and help me. In the end, I was not only able to survive summer classes, but I was able to thrive thanks to Course Hero.

    Student Picture

    Dana University of Pennsylvania ‘17, Course Hero Intern

  • Left Quote Icon

    The ability to access any university’s resources through Course Hero proved invaluable in my case. I was behind on Tulane coursework and actually used UCLA’s materials to help me move forward and get everything together on time.

    Student Picture

    Jill Tulane University ‘16, Course Hero Intern