Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

被引：36

作者：

Mansour, Sahar ^{[1
]}

Swinkels, Marielle ^{[2
]}

Terhal, Paulien A. ^{[2
]}

Wilson, Louise C. ^{[3
]}

Rich, Philip ^{[4
]}

Van Maldergem, Lionel ^{[5
]}

Zwijnenburg, Petra J. G. ^{[6
]}

Hall, Christine M. ^{[7
]}

Robertson, Stephen P. ^{[8
]}

Newbury-Ecob, Ruth ^{[9
]}

机构：

[1] St Georges Hosp NHS Trust, S W Thames Reg Genet Serv, London SW17 0RE, England

[2] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

[3] Great Ormond St Hosp Sick Children, N E Thames Reg Genet Serv, London WC1N 3JH, England

[4] St Georges Hosp NHS Trust, Dept Neuroradiol, London, England

[5] Univ Franche Comte, Ctr Genet Humaine, F-25030 Besancon, France

[6] Dept Clin Genet VUMC, Amsterdam, Netherlands

[7] Inst Child Hlth, London, England

[8] Univ Otago, Dunedin Sch Med, Dept Paediat & Child Hlth, Dunedin, New Zealand

[9] St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 10期

关键词：

blepharo-naso-facial malformation; camptodactyly; bilateral periventricular nodular heterotopia; autosomal recessive; choanal atresia; migration abnormalities; FACIAL ABNORMALITIES; PERIVENTRICULAR HETEROTOPIA; JOINT CONTRACTURES; MALFORMATIONS; PACHYGYRIA; MUTATIONS;

D O I：

10.1038/ejhg.2012.57

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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

引用

页码：1024 / 1031

页数：8

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