Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

David P. Bick; Daniel F. Schorderet; Paul A. Price; Leslie Campbell; Robert W. Huff; Larry J. Shapiro; Charleen M. Moore

doi:10.1002/pd.1970120104

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

David P. Bick, Daniel F. Schorderet, Paul A. Price, Leslie Campbell, Robert W. Huff, Larry J. Shapiro, Charleen M. Moore

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

31 Scopus citations

Abstract

We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

Original language	English
Pages (from-to)	19-29
Number of pages	11
Journal	Prenatal Diagnosis
Volume	12
Issue number	1
DOIs	https://doi.org/10.1002/pd.1970120104
State	Published - Jan 1992

Keywords

Chondrodysplasia punctata
Kallmann syndrome
Neuronal migration
Steroid sulphatase deficiency
Vitamin K

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title = "Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion",

abstract = "We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.",

keywords = "Chondrodysplasia punctata, Kallmann syndrome, Neuronal migration, Steroid sulphatase deficiency, Vitamin K",

author = "Bick, {David P.} and Schorderet, {Daniel F.} and Price, {Paul A.} and Leslie Campbell and Huff, {Robert W.} and Shapiro, {Larry J.} and Moore, {Charleen M.}",

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T1 - Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

AU - Bick, David P.

AU - Schorderet, Daniel F.

AU - Price, Paul A.

AU - Campbell, Leslie

AU - Huff, Robert W.

AU - Shapiro, Larry J.

AU - Moore, Charleen M.

PY - 1992/1

Y1 - 1992/1

N2 - We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

AB - We report the prenatal diagnosis of a male fetus with X‐linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X‐linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

KW - Chondrodysplasia punctata

KW - Kallmann syndrome

KW - Neuronal migration

KW - Steroid sulphatase deficiency

KW - Vitamin K

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DO - 10.1002/pd.1970120104

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SN - 0197-3851

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JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 1

ER -

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

Abstract

Keywords

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