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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology
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Child
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Child, Preschool
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Consanguinity
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Craniofacial Abnormalities / diagnosis*
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Craniofacial Abnormalities / genetics
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Craniofacial Abnormalities / pathology
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Diagnosis, Differential
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Female
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Foot Deformities, Congenital / diagnosis*
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Foot Deformities, Congenital / genetics
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Foot Deformities, Congenital / pathology
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Genes, Recessive*
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Hand Deformities, Congenital / diagnosis*
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Hand Deformities, Congenital / genetics
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Hand Deformities, Congenital / pathology
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Humans
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Joint Instability / diagnosis*
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Joint Instability / genetics
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Joint Instability / pathology
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Karyotype
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Male
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Malformations of Cortical Development, Group II / diagnosis*
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Malformations of Cortical Development, Group II / genetics
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Malformations of Cortical Development, Group II / pathology
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Pedigree
Supplementary concepts
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Van Maldergem Wetzburger Verloes syndrome