Publication

Malpuech syndrome: Three patients and a review

Kerstjens-Frederikse, WS., Brunner, HG., van Dael, CML. & van Essen, AJ., 1-May-2005, In : American Journal of Medical Genetics. Part A. 134A, 4, p. 450-453 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Kerstjens-Frederikse, WS., Brunner, HG., van Dael, CML., & van Essen, AJ. (2005). Malpuech syndrome: Three patients and a review. American Journal of Medical Genetics. Part A, 134A(4), 450-453. https://doi.org/10.1002/ajmg.a.30662

Author

Kerstjens-Frederikse, WS ; Brunner, HG ; van Dael, CML ; van Essen, AJ. / Malpuech syndrome : Three patients and a review. In: American Journal of Medical Genetics. Part A. 2005 ; Vol. 134A, No. 4. pp. 450-453.

Harvard

Kerstjens-Frederikse, WS, Brunner, HG, van Dael, CML & van Essen, AJ 2005, 'Malpuech syndrome: Three patients and a review', American Journal of Medical Genetics. Part A, vol. 134A, no. 4, pp. 450-453. https://doi.org/10.1002/ajmg.a.30662

Standard

Malpuech syndrome : Three patients and a review. / Kerstjens-Frederikse, WS; Brunner, HG; van Dael, CML; van Essen, AJ.

In: American Journal of Medical Genetics. Part A, Vol. 134A, No. 4, 01.05.2005, p. 450-453.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Kerstjens-Frederikse WS, Brunner HG, van Dael CML, van Essen AJ. Malpuech syndrome: Three patients and a review. American Journal of Medical Genetics. Part A. 2005 May 1;134A(4):450-453. https://doi.org/10.1002/ajmg.a.30662


BibTeX

@article{0f38ff2fa45d4621956b3173b2fc1895,
title = "Malpuech syndrome: Three patients and a review",
abstract = "We describe three patients with Malpucch syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome. (c) 2005 Wiley-Liss, Inc.",
keywords = "Malpuech syndrome, hydrops fetalis, cleft lip and palate, caudal appendage, micropenis, hypoplastic left heart, VSD, autosomal recessive, MCA MR SYNDROME, MENTAL-RETARDATION, CAUDAL APPENDAGE, CLEFT-LIP, ANOMALIES, PALATE, SIBLINGS, OVERLAP, HEART, GENE",
author = "WS Kerstjens-Frederikse and HG Brunner and {van Dael}, CML and {van Essen}, AJ",
year = "2005",
month = "5",
day = "1",
doi = "10.1002/ajmg.a.30662",
language = "English",
volume = "134A",
pages = "450--453",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",
number = "4",

}

RIS

TY - JOUR

T1 - Malpuech syndrome

T2 - Three patients and a review

AU - Kerstjens-Frederikse, WS

AU - Brunner, HG

AU - van Dael, CML

AU - van Essen, AJ

PY - 2005/5/1

Y1 - 2005/5/1

N2 - We describe three patients with Malpucch syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome. (c) 2005 Wiley-Liss, Inc.

AB - We describe three patients with Malpucch syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital abnormalities, and caudal appendage are the key features. Although the spectrum of the features in the reported patients is variable, we do think this syndrome represents a distinct entity. Chromosomal anomalies should be carefully searched for. We discuss differential diagnosis and possible candidate genes and propose diagnostic criteria for Malpuech syndrome. (c) 2005 Wiley-Liss, Inc.

KW - Malpuech syndrome

KW - hydrops fetalis

KW - cleft lip and palate

KW - caudal appendage

KW - micropenis

KW - hypoplastic left heart

KW - VSD

KW - autosomal recessive

KW - MCA MR SYNDROME

KW - MENTAL-RETARDATION

KW - CAUDAL APPENDAGE

KW - CLEFT-LIP

KW - ANOMALIES

KW - PALATE

KW - SIBLINGS

KW - OVERLAP

KW - HEART

KW - GENE

U2 - 10.1002/ajmg.a.30662

DO - 10.1002/ajmg.a.30662

M3 - Article

VL - 134A

SP - 450

EP - 453

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 4

ER -

ID: 4324736