A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters | Zendy

Stevenson David A. | Zendy; Carey John C. | Zendy

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A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

Author(s) -

Stevenson David A.,

Carey John C.

Publication year - 2007

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31945

Subject(s) - camptodactyly , microphthalmia , hypoplasia , agenesis , cerebellar hypoplasia (non human) , pierre robin syndrome , anatomy , agenesis of the corpus callosum , mental handicap , medicine , microcephaly , corpus callosum , pediatrics , biology , genetics , cerebellum , psychiatry , gene

We report on the similar phenotypes and clinical course of two sisters. Both patients had an enlarged cisterna magna suggestive of cerebellar hypoplasia, agenesis/hypoplasia of the corpus callosum, Pierre Robin sequence requiring tracheostomy, camptodactyly, microphthalmia, colobomas, seizures, a distinctive facial appearance, global developmental delay, and mental retardation. We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance. © 2007 Wiley‐Liss, Inc.

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