A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of Giuffrè-Tsukahara syndrome?
We report on a three-generation Chinese family presenting with a recognizable condition consisting of radio-ulnar synostosis, short stature, scoliosis, distinctive craniofacial features (thick vermilion to the lips, prominent eyes, and flat malar region), and a shortened and thickened femur neck. The inheritance of the trait was presumably autosomal dominant. The lack of microcephaly in the family suggested a variant of Giuffè-Tsukahara syndrome but could represent variability
The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Department of Emergency, Hunan Children's Hospital, University of South China, Changsha, China. xiangeryiym@yahoo.com.cn
Yimin
Y
Zhu
Ke
K
Jin
Haibo
H
Mei
Liping
L
Li
Zheng
Z
Liu
Yongjia
Y
Yang
Jingsong
J
Tang
Xielin
X
He
Rui
R
Zhao
Xinyu
X
He
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008047:Lip Diseases / Q000235:genetics*; D008297:Male; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*