title: Malpuech syndrome: three patients and a review.
abstract: We describe three patients with Malpuech 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.
authors.affiliation: Department of Clinical Genetics, University Medical Centre Groningen, The Netherlands. w.s.kerstjens@medgen.umcg.nl
authors.forename: W S
authors.initials: WS
authors.lastname: Kerstjens-Frederikse
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: C M L
authors.initials: CM
authors.lastname: van Dael
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000473:pathology