Cartilage-Hair Hypoplasia Syndrome: Implications for Prenatal Diagnosis

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

doi:10.1159/000264353

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

Obstetrics and Gynecology

Research output: Contribution to journal › Article › peer-review

4 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 language	English (US)
Pages (from-to)	398-401
Number of pages	4
Journal	Fetal Diagnosis and Therapy
Volume	11
Issue number	6
DOIs	https://doi.org/10.1159/000264353
State	Published - Jan 1 1996

Keywords

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

ASJC Scopus subject areas

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

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10.1159/000264353

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title = "Cartilage-Hair Hypoplasia Syndrome: Implications for Prenatal Diagnosis",

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.",

keywords = "Cartilage-hair hypoplasia syndrome, Metaphyseal chondrodysplasia, Prenatal diagnosis, Type McKusick, Ultrasonography",

author = "Dungan, {Jeffrey S.} and Emerson, {Donald S.} and Phillips, {Owen P.} and Shulman, {Lee P.}",

year = "1996",

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doi = "10.1159/000264353",

language = "English (US)",

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T2 - Implications for Prenatal Diagnosis

AU - Dungan, Jeffrey S.

AU - Emerson, Donald S.

AU - Phillips, Owen P.

AU - Shulman, Lee P.

PY - 1996/1/1

Y1 - 1996/1/1

N2 - 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.

AB - 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.

KW - Cartilage-hair hypoplasia syndrome

KW - Metaphyseal chondrodysplasia

KW - Prenatal diagnosis

KW - Type McKusick

KW - Ultrasonography

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JO - Fetal Diagnosis and Therapy

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ER -

Cartilage-Hair Hypoplasia Syndrome: Implications for Prenatal Diagnosis

Abstract

Keywords

ASJC Scopus subject areas

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