TY - JOUR
T1 - Newly recognized blepharofacioskeletal syndrome
AU - Richieri-Costa, A.
AU - Guion-Almeida, M. L.
AU - Rodini, E. S.O.
AU - Pereira, S. C.S.
AU - Cohen, M. M.
PY - 1993
Y1 - 1993
N2 - A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
AB - A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
UR - http://www.scopus.com/inward/record.url?scp=0027296243&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027296243&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320460603
DO - 10.1002/ajmg.1320460603
M3 - Article
C2 - 8362901
AN - SCOPUS:0027296243
SN - 0148-7299
VL - 46
SP - 620
EP - 622
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 6
ER -