Gorincour Guillaume, Rypens Françoise, Grignon Andrée, Garel Laurent, Bortoluzzi Patricia, Oligny Luc, Lemyre Emmanuelle, Duperron Louise
Department of Pediatric Imaging, Sainte Justine Hospital, Montreal, Canada.
Fetal Diagn Ther. 2005 Jul-Aug;20(4):296-300. doi: 10.1159/000085089.
Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. This case report stresses the need to thoroughly analyze the fetus and particularly the fetal hands in case of prenatal observation of a cloverleaf skull. The discovery of characteristic hand abnormalities allowed the early prenatal detection of type 2 Pfeiffer syndrome in our patient.
法伊弗综合征是一种极其罕见的常染色体显性疾病，其产前诊断仅有6例报道，主要基于胎儿的三叶草形颅骨畸形。该病已被描述为三种类型，每种类型的预后不同。本病例报告强调，在产前观察到三叶草形颅骨时，有必要对胎儿尤其是胎儿手部进行全面分析。特征性手部异常的发现使我们的患者在产前得以早期诊断出2型法伊弗综合征。
