Fryns syndrome: Case report and review of the literature

YÜCESOY G., Cakiroglu Y., Caliskan E.

JOURNAL OF CLINICAL ULTRASOUND, vol.36, no.5, pp.315-317, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 36 Issue: 5
  • Publication Date: 2008
  • Doi Number: 10.1002/jcu.20409
  • Journal Name: JOURNAL OF CLINICAL ULTRASOUND
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.315-317
  • Kocaeli University Affiliated: Yes

Abstract

Fryns syndrome (FS) is a rare malformation. We report a case of FS referred to our clinic at 27 weeks' gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed a left-sided diaphragmatic hernia, pulmonary hypoplasia, and a median orofacial cleft. The diagnosis of FS was made after exclusion of chromosome aberrations and delivery of the fetus. Macroscopic inspection revealed a coarse face (hypertelorism and broad and flat nasal bridge, anteverted nostrils, median cleft lip/palate, poorly shaped auricles with attached earlobes, facial hirsutism), a narrow thorax, nail hypoplasia, and hypoplastic, widely spaced nipples. (C) 2007 Wiley Periodicals, Inc.