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先天性单骨纤维发育不良——一种新的可能为常染色体隐性遗传的疾病。

Congenital monostotic fibrous dysplasia--a new possibly autosomal recessive disorder.

作者信息

El Deeb M, Waite D E, Gorlin R J

出版信息

J Oral Surg. 1979 Jul;37(7):520-5.

PMID:286770
Abstract

Two siblings, a 3-month-old white male infant and a 12-day-old female infant, had an anterior mandibular bony lesion that, in both cases, had been present at birth. After evaluation of clinical, physical, radiographic, laboratory, and histologic findings, a diagnosis of congenital monostotic fibrous dysplasia was made. Thorough review of the literature on fibrous dysplasia yielded no similar cases. The two cases presented appear to be the first reported examples of congenital monostotic fibrous dysplasia in siblings. The parents said there was no consanguinity. The possibility of a new autosomal-recessive disorder is likely.

摘要

两名兄弟姐妹,一名3个月大的白人男婴和一名12天大的女婴,均患有下颌前部骨病变,且在这两个病例中,病变在出生时就已存在。在对临床、体格检查、影像学、实验室和组织学检查结果进行评估后,诊断为先天性单骨型纤维发育不良。对纤维发育不良的文献进行全面回顾,未发现类似病例。所呈现的这两个病例似乎是首次报道的兄弟姐妹患先天性单骨型纤维发育不良的例子。父母表示他们没有血缘关系。很可能是一种新的常染色体隐性疾病。

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