Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1941967.
- Also identified by PMC identifier 1017059.
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Abstract
We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. Cerebral involvement was evident in two of the patients who had suffered perinatal asphyxia. The presence of the syndrome in all four sibs together with the negative family history in previous generations is consistent with Mendelian autosomal recessive inheritance with high penetrance.
Medical subject headings
- Abnormalities, Multiple
- Diseases in Twins