Centre for Molecular and Metabolic Diagnostics & Research, Narayana Hrudayalaya Hospitals, Bangalore, India.
Am J Med Genet A. 2012 Jun;158A(6):1467-71. doi: 10.1002/ajmg.a.35360. Epub 2012 May 14.
Atretic cephaloceles associated with multiple congenital anomalies are known to follow either autosomal dominant or autosomal recessive patterns of inheritance. Zechi-Ceide syndrome (OMIM 612916) is an autosomal recessive disorder, characterized by an occipital atretic cephalocele, characteristic facial features, and large feet. Here we describe a patient with findings fitting Zechi-Ceide syndrome, in whom some of the manifestations were also present in his mother, indicating either autosomal dominant inheritance with variable expression, X-linked inheritance, or a manifesting carrier of an autosomal recessive inheritance.
伴有多种先天性异常的萎缩性颅裂被认为遵循常染色体显性或常染色体隐性遗传模式。泽奇-塞德综合征（OMIM 612916）是一种常染色体隐性疾病，其特征是枕部萎缩性颅裂、特征性面部特征和大脚。在这里，我们描述了一名患者的发现符合泽奇-塞德综合征，其一些表现也存在于他的母亲中，这表明常染色体显性遗传伴可变表达、X 连锁遗传或常染色体隐性遗传的表现型携带者。
