Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

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Title:	Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia
Authors:	陳持平;Chih-Ping Chen;Shuan-Pei Li;Shuan-Pei Lin;Yu-Peng Liu;Schu-Rern Ch;Schu-Rern Chern;Shin-Wen Che;Shin-Wen Chen;Shih-Ting La;Shih-Ting Lai;Wayseen Wang
Contributors:	生物科技學系
Date:	2017-06
Issue Date:	2017-10-30 02:39:00 (UTC+0)
Abstract:	Dear Editor, The male propositus was the first child of a healthy unrelated couple. The mother was 32 years old, and the father was 37 years old at his birth. There was no family history of congenital malformations. The pregnancy was uncomplicated and associated with unremarkable prenatal ultrasound findings. He was born at 39 weeks by cesarean section due to breech presentation. Birth weight was 2740 g, length was 49 cm, and head circumference was 33.5 cm. After birth, he was found to have severe proptosis, bilateral hearing loss, brachycephaly, hypertelorism, broad big toes and thumbs, low-set ears, and midface hypoplasia (Figs. 1 and 2). He had suffered from respiratory distress and cardiac arrest because of laryngomalacia that required a surgery to release and repair larynx. Radiographs showed multisynostoses of sagittal and coronal sutures, shallow orbits, brachycephaly and ventriculomegaly (Fig. 3). A diagnosis of type 3 Pfeiffer syndrome was made. Cytogenetic analysis revealed a karyotype of 46,XY. Molecular analysis of peripheral blood at age three months revealed a heterozygous c.1024T>C, TGC>CGC transition, leading to a p.Cys342Arg (C342R) mutation in the FGFR2 gene (Fig. 4).
Relation:	TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
Appears in Collections:	[生物科技學系] 期刊論文

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