期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 20, 期 10, 页码 1024-1031出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.57
关键词
blepharo-naso-facial malformation; camptodactyly; bilateral periventricular nodular heterotopia; autosomal recessive; choanal atresia; migration abnormalities
资金
- Health Research Council of NZ
- Curekids NZ
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. European Journal of Human Genetics (2012) 20, 1024-1031; doi: 10.1038/ejhg.2012.57; published online 4 April 2012
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