一名患有颅额鼻综合征的女性患者的先天性膈疝。
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.
作者信息
Brooks Alice S, van Dooren Marieke, Hoogeboom Jeannette, Gischler Saskia, Willems Patrick J, Tibboel Dick
出版信息
Clin Dysmorphol. 2002 Apr;11(2):151-3. doi: 10.1097/00019605-200204000-00019.
Abstract
A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.
摘要
本文描述了一名21个月大的白种女性，她患有颅额鼻综合征并伴有膈肌后外侧缺损（Bochdalek型）。这被认为是一种此前未被描述过的综合征组合。家系分析结果与颅额鼻综合征的X连锁遗传模式相符。
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