title: Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
abstract: We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original patient. The phenotype comprises a distinctive facial appearance that includes blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus, intellectual disability, digital contractures and skeletal anomalies together with subependymal and subcortical neuronal heterotopia. Affected patients typically have neonatal hypotonia, chronic feeding difficulties and respiratory problems. In our cohort, we have observed one instance of sibling recurrence and parental consanguinity in three of the families, indicating that autosomal recessive inheritance is likely.
authors.affiliation: South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK. smansour@sgul.ac.uk
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Marielle
authors.initials: M
authors.lastname: Swinkels
authors.forename: Paulien A
authors.initials: PA
authors.lastname: Terhal
authors.forename: Louise C
authors.initials: LC
authors.lastname: Wilson
authors.forename: Philip
authors.initials: P
authors.lastname: Rich
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Petra J G
authors.initials: PJ
authors.lastname: Zwijnenburg
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hall
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Robertson
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D007593:Joint Instability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D059785:Karyotype; D008297:Male; D054081:Malformations of Cortical Development, Group II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree