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Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome?
Author(s) -
Semerci C. Nur,
Zorlu Pelin,
Topal Yasar,
Izbudak Izlem,
Karacan Candemir,
Balci Sevim
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20232
Subject(s) - hypertelorism , anophthalmia , medicine , nose , skull , anatomy , biology , microphthalmia , biochemistry , gene
We present a male infant 2.5‐months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro‐oculo‐nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro‐oculo‐nasal syndrome or a new entity. © 2003 Wiley‐Liss, Inc.