Garau A, Nurchi A M, Melis P, Frau G, Costa G
Istituto di Clinica Pediatrica, Università di Cagliari, Italia.
Pediatr Med Chir. 1988 Mar-Apr;10(2):227-32.
Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).
手足畸形通常是复杂畸形综合征的一部分。本文报道了一个家族，该家族的三个同胞（两男一女）患有对称性软组织并指（趾）畸形，累及手指和脚趾，第五指弯曲指畸形，伴有一系列畸形特征，包括睑裂向下倾斜、长而扁平的鼻根、鼻孔外翻（“希腊战士头盔”样外观）、牙齿发育异常，此外，还有严重生长发育迟缓、小头畸形、严重智力缺陷伴脑电图脑活动不成熟、高促性腺激素性性腺功能减退以及一些骨骼异常。所有病例在一对1号染色体中的一条上均显示有大的次缢痕（1qh+）。
