Temple I K
Wessex Regional Clinical Genetics Unit, Department of Child Health, Princess Anne Hospital, Southampton.
Clin Dysmorphol. 1992 Jan;1(1):17-21.
A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).
描述了一位母亲和儿子,他们有特殊面容、动脉导管未闭、远端指间关节融合以及轻度学习困难。面部特征包括眼距过宽、斜视、鼻梁扁平、人中短和三角形嘴。这种常染色体显性综合征曾由F. 查尔(1978年)在另一个家族中报道过。