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

32 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.\}",

year = "1992",

month = jan,

doi = "10.1002/pd.1970120104",

language = "English",

volume = "12",

pages = "19--29",

journal = "Prenatal Diagnosis",

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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

UR - https://www.scopus.com/pages/publications/0026512044

U2 - 10.1002/pd.1970120104

DO - 10.1002/pd.1970120104

M3 - Article

C2 - 1557308

AN - SCOPUS:0026512044

SN - 0197-3851

VL - 12

SP - 19

EP - 29

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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