South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK.
Eur J Hum Genet. 2012 Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57. Epub 2012 Apr 4.
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.
我们报告了五组无亲缘关系的家庭中的六位患者，这些患者的病症与最初由 Van Maldergem 等人描述的疾病一致，并对最初的患者进行了随访研究。该表型包括独特的面部特征，包括眼睑裂狭小、上颌骨发育不良、内眦赘皮、小耳畸形和外耳道闭锁、智力障碍、手指挛缩和骨骼异常，以及室管膜下和皮质下神经元异位。受影响的患者通常在新生儿期存在张力减退、慢性喂养困难和呼吸问题。在我们的队列中，我们观察到三个家庭中的一个兄弟姐妹复发和父母近亲结婚的情况，这表明可能是常染色体隐性遗传。
