Nazzaro Alfredo, Della Monica Matteo, Lonardo Fortunato, Di Blasi Arturo, Baffico Maria, Baldi Maurizia, Nazzaro Giovanni, De Placido Giuseppe, Scarano Gioacchino
Prenatal Diagnosis Unit, Gaetano Rummo Hospital, Benevento, Italy.
Prenat Diagn. 2004 Nov;24(11):918-22. doi: 10.1002/pd.844.
Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G --> C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull.
法伊弗综合征的特征为双侧冠状缝早闭、面中部发育不全、鼻尖呈喙状、拇指和大脚趾宽阔且向内侧偏斜。最初，它在一个符合常染色体显性遗传的家系中的三代八个人身上被描述。从那时起，几份报告记录了其高度的临床和遗传异质性。这种情况通常在新生儿期或更晚被发现，产前超声诊断的报告非常少。我们报告一例在妊娠20周时产前诊断为法伊弗综合征的病例，其中颅缝早闭、伴有极度眼球突出的眼距过宽以及宽阔拇指的超声特征导致了诊断，在妊娠终止后通过畸形学、病理学和放射学评估得以证实。对成纤维细胞生长因子受体2（FGFR2）的DNA分析显示在核苷酸870处有一个由G→C颠换组成的错义突变。这导致了色氨酸290到半胱氨酸的氨基酸替换。我们讨论了我们的病例以及先前发表病例的相关发现。我们的报告表明，仔细的超声检查即使在没有三叶形头颅的病例中也能导致法伊弗综合征的早期产前诊断。
