Cartilage-Hair Hypoplasia Syndrome

Implications for Prenatal Diagnosis

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Prenatal Diagnosis
Hair
Genes
Cartilage-hair hypoplasia

All Science Journal Classification (ASJC) codes

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

Cite this

Cartilage-Hair Hypoplasia Syndrome : Implications for Prenatal Diagnosis. / Dungan, Jeffrey S.; Emerson, Donald S.; Phillips, Owen; Shulman, Lee P.

In: Fetal Diagnosis and Therapy, Vol. 11, No. 6, 01.01.1996, p. 398-401.

Research output: Contribution to journalArticle

Dungan, Jeffrey S. ; Emerson, Donald S. ; Phillips, Owen ; Shulman, Lee P. / Cartilage-Hair Hypoplasia Syndrome : Implications for Prenatal Diagnosis. In: Fetal Diagnosis and Therapy. 1996 ; Vol. 11, No. 6. pp. 398-401.
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