Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Am J Med Genet A. 2011 Sep;155A(9):2288-92. doi: 10.1002/ajmg.a.34163. Epub 2011 Aug 10.
We describe a 3-month-old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel-Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance.
我们描述了一名 3 个月大的男性婴儿，患有腭裂、悬雍垂、小颌畸形和双侧指弯曲，这些特征与 Catel-Manzke 综合征相符。此外，患者的膝关节韧带松弛，这是该综合征的罕见表现。Catel-Manzke 综合征的遗传模式尚不清楚。大多数病例被认为是散发性的，但本病例的父母近亲结婚，以及可能受影响的同胞，为常染色体隐性遗传提供了支持。
