期刊
CLINICAL DYSMORPHOLOGY
卷 11, 期 2, 页码 151-153出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200204000-00019
关键词
craniofrontonasal syndrome; congenital diaphragmatic hernia
A 21-mouth-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.
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