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Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.

Authors
  • Brooks, Alice S
  • van Dooren, Marieke
  • Hoogeboom, Jeannette
  • Gischler, Saskia
  • Willems, Patrick J
  • Tibboel, Dick
Type
Published Article
Journal
Clinical Dysmorphology
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Apr 01, 2002
Volume
11
Issue
2
Pages
151–153
Identifiers
PMID: 12002152
Source
Medline
License
Unknown

Abstract

A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.

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