Noonan syndrome (male turner syndrome) 8

General: Similar to Turner syndrome, but with normal chromosomal analysis; X-linked dominant inheritance; X-linked d 353i81d ominant phenotype.

Ocular: Hypertelorism; exophthalmos; ptosis (unilateral or bilateral); antimongoloid-slanting palpebral fissure; myopia; keratoconus; optic disk coloboma.

Clinical: Valvular pulmonary stenosis; short stature; webbed neck; low hairline in the back; cubitus valgus; deformed chest wall; micrognathia; low-set ears; mild mental retardation.

Ahmed ML, et al. Noonan's syndrome abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone. Acta Paediatr Scand 1991; 80:446-450.

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Noonan JA. Hypertelorism with Turner phenotype: a new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116:373.

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