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Oto‐facio‐osseous‐gonadal syndrome: a new form of syndromic deafness?
Author(s) -
DaSilva Elias O.,
Duarte Andréa R.,
Lins Thereza S. S.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02514.x
Subject(s) - genu valgum , brachycephaly , medicine , short stature , palpebral fissure , anatomy , kyphoscoliosis , nasal bone , nose , scoliosis , orthodontics , pediatrics , skull , surgery
In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low‐set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. This combination of anomalies appears to be a previously undescribed syndrome, with probable autosomal recessive inheritance.