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

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...

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Veröffentlicht in:	European journal of human genetics : EJHG 2012-10, Vol.20 (10), p.1024-1031
Hauptverfasser:	MANSOUR, Sahar, SWINKELS, Marielle, TERHAL, Paulien A, WILSON, Louise C, RICH, Philip, VAN MALDERGEM, Lionel, ZWIJNENBURG, Petra Jg, HALL, Christine M, ROBERTSON, Stephen P, NEWBURY-ECOB, Ruth
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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