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

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Mansour, S.; Swinkels, M.; Terhal, P. A.; Wilson, L. C.; Rich, P.; Van Maldergem, L.; Zwijnenburg, P. J. G.; Hall, C. M.; Robertson, S. P.; Newbury-Ecob, R.
Year of Publication: 2012
Journal: Eur J Hum Genet
Volume: 20
Issue: 10
Pagination: 1024-31
Date Published: 10/2012
Publication Language: eng
ISSN: 1476-5438
Keywords: Abnormalities, Multiple, Child, Child, Preschool, Consanguinity, Craniofacial Abnormalities, Diagnosis, Differential, Female, Foot Deformities, Congenital, Genes, Recessive, Hand Deformities, Congenital, Humans, Intellectual Disability, Joint Instability, Karyotype, Male, Malformations of Cortical Development, Group II, Pedigree

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.

DOI: 10.1038/ejhg.2012.57
Alternate Journal: Eur. J. Hum. Genet.