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

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 wa s 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).
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Research Letter Source Type: research