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Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome
Clinical Dysmorphology
|May 11, 2002
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.
