Nivelon A, Nivelon J L, Matthieu M, Piussan C, Maroteaux P
Centre Hospitalier Régional, Dijon.
Ann Pediatr (Paris). 1991 Jan;38(1):9-13.
Three cases of acrocephalosyndactyly with duplication of the first toe and presence of six well-individualized metatarsals are reported. This type of polysyndactyly should suggest the diagnosis of Carpenter syndrome, which is inherited on a recessive autosomal basis. However, in the three patients reported here, the facial dysmorphism was distinct from that seen in Carpenter syndrome and the syndactyly was more marked. The correct diagnosis therefore seems to be Apert acrocephalosyndactyly, a disease with dominant transmission. A mutation seems very likely and consequently the risk of recurrence in siblings is probably minimal.
报告了3例尖头并指畸形病例，伴有拇趾重复及6根发育良好的独立跖骨。这种多指畸形类型应提示 Carpenter 综合征的诊断，该病为常染色体隐性遗传。然而，在此报告的3例患者中，面部畸形与Carpenter综合征所见不同，且并指更为明显。因此，正确诊断似乎是Apert尖头并指畸形，一种显性遗传疾病。很可能存在突变，因此兄弟姐妹的复发风险可能极小。
