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Noonan syndrome (male turner syndrome) 8


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.

Daoud MS, Dahl PR, Su WP. Noonan syndrome. Semin Dermatol 1995; 14:140-l44.

Goens NM, Campbell D, Wiggins JW. Spontaneous chylothorax in Noonan syndrome. Treatment with prednisone. Am J Dis Child 1992; 146:1453-l456.

Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992; 6[Part 3]:328-334.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Miller M, Motulsky AC. Noonan syndrome in an adult family presenting with chronic lymphedema. Am J Med 1978; 65:379-383.

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

Schwartz DE. Noonan's syndrome associated with ocular abnormalities. Am J Ophthalmol 1972; 73:955.

Sharland M, et al. A Clinical study of Noonan syndrome. Arch Dis Child 1992; 67:178-l83.

Wiedemann HR. Otto Ullrich and his syndromes. Am J Med Genet 1991; 41:128-l33.

White SW Lymphedema in Noonan's syndrome. Int J Dermatol 1984; 23:656-657.




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