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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 journal › Article › Academic › peer-review
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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 journal › Article › Academic › peer-review
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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