Journal Article

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

Wilson, Louise C, Rich, Philip, Newbury-Ecob, Ruth, Hall, Christine M, Terhal, Paulien A, Mansour, Sahar, Van Maldergem, Lionel, Swinkels, Marielle, Zwijnenburg, Petra JG, Robertson, Stephen P

2012

Overview

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.

• Publisher: Nature Publishing Group
• Subject: Abnormalities, Multiple - diagnosis / Abnormalities, Multiple - genetics / Abnormalities, Multiple - pathology / Biological and medical sciences / Blepharophimosis / Cell migration / Child / Child, Preschool / Childrens health / Consanguinity / Craniofacial Abnormalities - diagnosis / Craniofacial Abnormalities - genetics / Craniofacial Abnormalities - pathology / Diagnosis, Differential / Diseases of the osteoarticular system / Feeding / Female / Foot Deformities, Congenital - diagnosis / Foot Deformities, Congenital - genetics / Foot Deformities, Congenital - pathology / Fundamental and applied biological sciences. Psychology / Genes, Recessive / Genetics / Genetics of eukaryotes. Biological and molecular evolution / Genotype & phenotype / Hand Deformities, Congenital - diagnosis / Hand Deformities, Congenital - genetics / Hand Deformities, Congenital - pathology / Heredity / Hospitals / Humans / Hypoplasia / Intellectual disabilities / Intellectual Disability - diagnosis / Intellectual Disability - genetics / Intellectual Disability - pathology / Joint Instability - diagnosis / Joint Instability - genetics / Joint Instability - pathology / Karyotype / Leukocyte migration / Male / Malformations and congenital and or hereditary diseases involving bones. Joint deformations / Malformations of Cortical Development, Group II - diagnosis / Malformations of Cortical Development, Group II - genetics / Malformations of Cortical Development, Group II - pathology / Maxilla / Medical genetics / Medical sciences / Mental retardation / Microtia / Molecular and cellular biology / Mutation / Neonates / Ostomy / Parents & parenting / Patients / Pedigree / Phenotypes / Siblings