1. Cerebrocostomandibular syndrome in four sibs, two pairs of twins
- Author
-
V Soubassi-Griva, A Andreou, M Pandouraki, and V Drossou-Agakidou
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Ribs ,symbols.namesake ,Jaw Abnormalities ,Diseases in Twins ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Jaw abnormality ,Family history ,Genetics (clinical) ,Rib cage ,business.industry ,Respiratory disease ,Brain ,Syndrome ,medicine.disease ,Pedigree ,Perinatal asphyxia ,Cerebrocostomandibular syndrome ,Mendelian inheritance ,symbols ,Female ,business ,Research Article ,High penetrance - 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.
- Published
- 1991
- Full Text
- View/download PDF