Multiple Pterygium Syndrome

Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with op...

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Veröffentlicht in:	Indian journal of pediatrics 1997, Vol.64 (1), p.113-116
Hauptverfasser:	ÖZKINAY, F. F, ÖZKINAY, C, AKIN, H, AZARSIZ, S, GÜNDÜZ, C
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Arm - abnormalities Atrophy Biological and medical sciences Child Complex syndromes Consanguinity Face - abnormalities Female Foot Deformities, Congenital - diagnosis Genitalia, Female - abnormalities Humans Medical genetics Medical sciences Optic Nerve - pathology Pterygium - diagnosis Spine - abnormalities Syndrome Tropical medicine
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Beschreibung
Zusammenfassung:	Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).
ISSN:	0019-5456 0973-7693
DOI:	10.1007/bf02795791