Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?

Abstract

Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet 1992:41: 22–24. A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan‐Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden‐Walker syndrome and Tel‐Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme pheno‐typic variant of one of the above‐mentioned syndromes.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

“…Patient 7 is the female who was originally reported by Van Maldergem et al 1 She is now 32 years old and was placed in an institution for the mentally handicapped from the age of 8 years. She has been diagnosed with autism, with hand stereotypies, no language and severe intellectual disability.…”

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

“…Even though not part of the initial description [van Maldergem et al, 1992], the CAKUT phenotype is a common manifestation of VMS that has previously been reported [Mansour et al, 2012;Neuhann et al, 2012;Cappello et al, 2013]. Neuhann et al [2012] furthermore described genital malformations, including cryptorchidism in their patient with VMS.…”

“…VMS was first described in 1992 [Van Maldergem et al, 1992]. In 2013, Cappello et al demonstrated that recessive mutations in the ligand-receptor pair DCHS1 and FAT4 are causative of 2 very similar manifestations of VMS.…”

“…In 2013, Cappello et al demonstrated that recessive mutations in the ligand-receptor pair DCHS1 and FAT4 are causative of 2 very similar manifestations of VMS. To date, there are 5 publications that provide detailed phenotypic descriptions of a total of 17 patients with VMS [van Maldergem et al, 1992;Zampino et al, 1994;Mansour et al, 2012;Neuhann et al, 2012;Cappello et al, 2013]. Only Cappello et al [2013], however, provides phenotypic information and the molecular diagnosis for their patients (including 5 patients with mutations in FAT4 ).…”

Neuron‐specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting

“…The Van Maldergem syndrome (VMS) was first described in 1992 showing mental retardation, blepharo‐naso‐facial abnormalities and hand malformations (van Maldergem et al . ). In later studies, skeletal dysplasia and anomalous neuronal migration are added as common features of this syndrome (Mansour et al .…”