Cartilage-Hair Hypoplasia Syndrome: Implications for Prenatal Diagnosis

Jeffrey S. Dungan, Donald S. Emerson, Owen P. Phillips, Lee P. Shulman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. We describe here the prenatal diagnosis of CHH in a woman who was previously delivered of a similarly affected infant. In addition, we review the prenatal diagnostic implications of the localization, by linkage analysis, of the gene responsible for many cases of CHH.

Original languageEnglish (US)
Pages (from-to)398-401
Number of pages4
JournalFetal Diagnosis and Therapy
Volume11
Issue number6
DOIs
StatePublished - Jan 1 1996

Keywords

  • Cartilage-hair hypoplasia syndrome
  • Metaphyseal chondrodysplasia
  • Prenatal diagnosis
  • Type McKusick
  • Ultrasonography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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