TY - JOUR
T1 - Craniofrontonasal syndrome
T2 - Study of 41 patients
AU - Saavedra, Dolores
AU - Richieri-Costa, Antonio
AU - Guion-Almeida, Maria Leine
AU - Cohen, M. Michael
PY - 1996/1/11
Y1 - 1996/1/11
N2 - Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X- linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).
AB - Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X- linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).
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U2 - 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U
DO - 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U
M3 - Article
C2 - 8669441
AN - SCOPUS:0030048456
SN - 0148-7299
VL - 61
SP - 147
EP - 151
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -