pseudo-Turner syndrome

pseudo-Turner syndrome

Noonan syndrome An AD condition with a heterogeneous presentation that mimics some of the clinical findings of Turner syndrome; both are characterized by short stature, webbing of the neck, developmental delays, pectus carinatum or pectus excavatum, and cubitus valgus; PTS affects both sexes, and is further characterized by mild mental retardation, congenital heart disease–pulmonary valve stenosis, ASD, etc, a characteristic facies–hypertelorism, epicanthus, antimongoloid palpebral slant, ptosis, low-set ears, micrognathia and gonadal defects in ♂ including cryptorchidism, ↓ Leydig cell function, ↓ spermatogenesis. Cf Turner syndrome.
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