Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

Clin Dysmorphol. 2002 Apr;11(2):151-3. doi: 10.1097/00019605-200204000-00019.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Craniofacial Abnormalities* / diagnostic imaging
  • Craniofacial Abnormalities* / genetics
  • Craniofacial Abnormalities* / pathology
  • Female
  • Hernia, Diaphragmatic / genetics
  • Hernia, Diaphragmatic / pathology
  • Hernias, Diaphragmatic, Congenital*
  • Humans
  • Infant
  • Infant, Newborn
  • Nose / abnormalities
  • Syndrome
  • Tomography, X-Ray Computed