Zechi-Ceide Roseli Maria, Guion-Almeida Maria Leine, Zanchetta Sthella, Richieri-Costa Antonio
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.
Am J Med Genet A. 2007 Dec 15;143A(24):3295-301. doi: 10.1002/ajmg.a.32019.
Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings include occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental deficiency, prominent forehead, midface deficiency, broad nose and nasal root, grooved nasal tip, abnormal nares, narrow malformed ears, severe oligodontia, and large wide feet with a gap between the hallux and the second toe. The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance.
在此，我们报告了一种新发现的综合征，该综合征出现在三名患有枕部闭锁性脑膨出、明显面部异常和大脚的兄弟姐妹身上。具体表现包括枕部闭锁性脑膨出、小脑蚓部发育不全、丹迪-沃克变异型、智力缺陷、前额突出、面中部发育不全、宽鼻及鼻根、鼻尖有沟、鼻孔异常、狭窄畸形的耳朵、严重少牙症，以及大而宽的脚，拇趾与第二趾之间有间隙。三名患者的表型存在差异。一对近亲夫妇的三名患病子女这一发现强烈提示常染色体隐性遗传。
