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.
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This record was last updated on 07/03/2016 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/12002152