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伴有胼胝体发育不全的彼得斯综合征:1例报告及常染色体隐性遗传的确认

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

作者信息

Camera G, Centa A, Pozzolo S, Camera A

机构信息

Centro di Genetica Umana, Ospedali Galliera, Genova, Italy.

出版信息

Clin Dysmorphol. 1993 Oct;2(4):317-21.

PMID:8305962
Abstract

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

摘要

我们描述了一名患有彼得斯-加综合征的男婴,其父母健康且为近亲结婚。该综合征包括角膜混浊、身材矮小、唇腭裂、低位耳、手足短小以及智力发育迟缓。头颅CT扫描显示胼胝体发育不全,据我们所知,此前尚未在彼得斯-加综合征患者中描述过这种情况。父母的近亲关系与所提出的常染色体隐性遗传相符。

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