<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Mansour, S.</style></author><author><style face="normal" font="default" size="100%">Swinkels, M.</style></author><author><style face="normal" font="default" size="100%">Terhal, P. A.</style></author><author><style face="normal" font="default" size="100%">Wilson, L. C.</style></author><author><style face="normal" font="default" size="100%">Rich, P.</style></author><author><style face="normal" font="default" size="100%">Van Maldergem, L.</style></author><author><style face="normal" font="default" size="100%">Zwijnenburg, P. J. G.</style></author><author><style face="normal" font="default" size="100%">Hall, C. M.</style></author><author><style face="normal" font="default" size="100%">Robertson, S. P.</style></author><author><style face="normal" font="default" size="100%">Newbury-Ecob, R.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Abnormalities, Multiple</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Consanguinity</style></keyword><keyword><style  face="normal" font="default" size="100%">Craniofacial Abnormalities</style></keyword><keyword><style  face="normal" font="default" size="100%">Diagnosis, Differential</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Foot Deformities, Congenital</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Recessive</style></keyword><keyword><style  face="normal" font="default" size="100%">Hand Deformities, Congenital</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intellectual Disability</style></keyword><keyword><style  face="normal" font="default" size="100%">Joint Instability</style></keyword><keyword><style  face="normal" font="default" size="100%">Karyotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Malformations of Cortical Development, Group II</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">10/2012</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">20</style></volume><pages><style face="normal" font="default" size="100%">1024-31</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/22473091?dopt=Abstract&lt;/p&gt;
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