Etiologic complexities of diaphragmatic defects: right diaphragmatic hernia, pulmonary hypoplasia/agenesis, and hydrocephalus in sibs

Am J Med Genet. 1991 Nov 1;41(2):164-8. doi: 10.1002/ajmg.1320410205.

Abstract

Here we review the complexities of diaphragmatic defects and describe sibs with small, right diaphragmatic defects with pulmonary hypoplasia/agenesis and hydrocephalus. Despite a poor initial prognosis, the propositus has progressed remarkably well. Antenatal sonographic study detected hydrocephalus but not the diaphragmatic defect in the sib of the propositus. Because diaphragmatic defects are most commonly found in association with other anomalies and may occur in association with chromosome anomalies careful workup of all affected infants is crucial for accurate genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Adrenal Glands / abnormalities
  • Adult
  • Cerebral Aqueduct / abnormalities
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Fetal Diseases / pathology
  • Fetus / abnormalities
  • Hernia, Diaphragmatic / embryology
  • Hernia, Diaphragmatic / epidemiology
  • Hernia, Diaphragmatic / genetics*
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / embryology
  • Hydrocephalus / epidemiology
  • Hydrocephalus / genetics*
  • Incidence
  • Infant, Newborn
  • Lung / abnormalities
  • Lung / embryology
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • alpha-Fetoproteins / analysis

Substances

  • alpha-Fetoproteins