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11 Cards in this Set

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Clinical Noonan Syndrome
Inheritance
Autosomal dominant (30% to 75%); PTPN 11 gene on 12q24.1
Prenatal
Ultrasound: cystic hygroma, polyhydramnios with normal karyotype DNA analysis
Incidence
Approximately 1:1,000 to 2,500 live births; M=F
Age at Prestnation
Birth
Pathogenesis
A defect in PTPN 11, a gene encoding the protein tyrosine phosphatase SHP2 and implicated in LEOPARD syndrome, has been linked to approximately 50% of cases; lymphedema thought to play a role in phenotype
Clinical
Skin
Lymphedema of lower extremities, pigmented nevi, caf6 au lait macules

Hair
Coarse, light colored, curly

Craniofacial
Hypertelorism, low set ears with thickened helices, micrognathia, webbed neck with low posterior hairline, high arched palate, ptosis

Musculoskeletal
Short stature, pectus excavatum/carinatum, cubitus vaigus

Cardiovascular
Pulmonic valve stenosis (most common), atrial septal defects

Central Nervous System
Mental retardation (mild to severe)

Genitourinary
Cryptorchiclism, hypogonadism
D/Dx
Turner syndrome (p. 350)
Neu rof ibromatosis/Noonan's overlap
Lab
Echocardiogram/electrocardiogram
Management
Cardiac surgery Referral to developmental ist/special school programs Examine parents for subtle phenotypic changes
Prognosis
Normal life span if cardiac defect treated and sequelae prevented