Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
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.
Department of Neonatology, Aristotelian University of Thessaloniki, Greece.
V
V
Drossou-Agakidou
A
A
Andreou
V
V
Soubassi-Griva
M
M
Pandouraki
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007569:Jaw Abnormalities / Q000235:genetics; D008297:Male; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome