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11 Cards in this Set
- Front
- Back
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Clinical Noonan Syndrome
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Inheritance
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Autosomal dominant (30% to 75%); PTPN 11 gene on 12q24.1
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Prenatal
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Ultrasound: cystic hygroma, polyhydramnios with normal karyotype DNA analysis
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Incidence
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Approximately 1:1,000 to 2,500 live births; M=F
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Age at Prestnation
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Birth
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Pathogenesis
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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
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Clinical
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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 |
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D/Dx
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Turner syndrome (p. 350)
Neu rof ibromatosis/Noonan's overlap |
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Lab
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Echocardiogram/electrocardiogram
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Management
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Cardiac surgery Referral to developmental ist/special school programs Examine parents for subtle phenotypic changes
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Prognosis
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Normal life span if cardiac defect treated and sequelae prevented
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