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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
Eur J Hum Genet. 2012 Oct; 20(10):1024-31.EJ

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+Show Affiliations

South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK. smansour@sgul.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22473091

Citation

Mansour, Sahar, et al. "Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance." European Journal of Human Genetics : EJHG, vol. 20, no. 10, 2012, pp. 1024-31.
Mansour S, Swinkels M, Terhal PA, et al. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. Eur J Hum Genet. 2012;20(10):1024-31.
Mansour, S., Swinkels, M., Terhal, P. A., Wilson, L. C., Rich, P., Van Maldergem, L., Zwijnenburg, P. J., Hall, C. M., Robertson, S. P., & Newbury-Ecob, R. (2012). Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics : EJHG, 20(10), 1024-31. https://doi.org/10.1038/ejhg.2012.57
Mansour S, et al. Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance. Eur J Hum Genet. 2012;20(10):1024-31. PubMed PMID: 22473091.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. AU - Mansour,Sahar, AU - Swinkels,Marielle, AU - Terhal,Paulien A, AU - Wilson,Louise C, AU - Rich,Philip, AU - Van Maldergem,Lionel, AU - Zwijnenburg,Petra J G, AU - Hall,Christine M, AU - Robertson,Stephen P, AU - Newbury-Ecob,Ruth, Y1 - 2012/04/04/ PY - 2012/4/5/entrez PY - 2012/4/5/pubmed PY - 2013/6/20/medline SP - 1024 EP - 31 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 20 IS - 10 N2 - 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. SN - 1476-5438 UR - https://www.unboundmedicine.com/medline/citation/22473091/Van_Maldergem_syndrome:_further_characterisation_and_evidence_for_neuronal_migration_abnormalities_and_autosomal_recessive_inheritance_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22473091/ DB - PRIME DP - Unbound Medicine ER -