Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

S. B. Wortmann; R. Rodenburg; B. Schwahn; J. A.M. Smeitink; E. Morava

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

S. B. Wortmann, R. Rodenburg, B. Schwahn, J. A.M. Smeitink, E. Morava

Medical Genetics

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

5 Scopus citations

Abstract

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.

Original language	English (US)
Pages (from-to)	119-123
Number of pages	5
Journal	Genetic Counseling
Volume	18
Issue number	1
State	Published - 2007

Keywords

Distal contractures
Mental and growth retardation
Mitochondrial
Periventricular lesions
Pyruvate oxidation
Trigonocephaly

ASJC Scopus subject areas

Genetics(clinical)

Cite this

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title = "Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited",

abstract = "We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.",

keywords = "Distal contractures, Mental and growth retardation, Mitochondrial, Periventricular lesions, Pyruvate oxidation, Trigonocephaly",

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T2 - Chitayat syndrome revisited

AU - Wortmann, S. B.

AU - Rodenburg, R.

AU - Schwahn, B.

AU - Smeitink, J. A.M.

AU - Morava, E.

PY - 2007

Y1 - 2007

N2 - We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.

AB - We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.

KW - Distal contractures

KW - Mental and growth retardation

KW - Mitochondrial

KW - Periventricular lesions

KW - Pyruvate oxidation

KW - Trigonocephaly

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AN - SCOPUS:34247536246

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JO - Genetic Counseling

JF - Genetic Counseling

IS - 1

ER -

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

Abstract

Keywords

ASJC Scopus subject areas

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