Fetal Diagnosis and Therapy
Cartilage-Hair Hypoplasia Syndrome: Implications for Prenatal DiagnosisDungan J.S.a · Emerson D.S.b · Phillips O.P.a · Shulman L.P.aDepartments of aObstetrics and Gynecology and bRadiology, University of Tennessee, Memphis, Tenn., USA
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Article / Publication Details
Received: March 06, 1996
Accepted: July 15, 1996
Published online: November 27, 2009
Issue release date: 1996
Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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.
© 1996 S. Karger AG, Basel
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Article / Publication Details
Received: March 06, 1996
Accepted: July 15, 1996
Published online: November 27, 2009
Issue release date: 1996
Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 0
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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