1.
Am J Med Genet A
; 158A(8): 2036-42, 2012 Aug.
Article
in English
| MEDLINE
| ID: mdl-22786695
ABSTRACT
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