A Case of Cornelia de Lange Syndrome

1. The anthors present a case of Cornelia de Lange syndrome in a four years old girl. 2. Since the general, facial and oral findings, and musculoskeletal alterations of this patient were found to coincided with symptoms and signs of typical Cornelia de Lange syndrome, this case was diagnosed as such. 3. Intraorally, highly arched palate, bifid uvula, and ankylosed labial frenum were also noted. 4. Radiographic examinations showed microcephaly with enlarged dorsum sella, smallness of jaws, hypoplasia of the first metacarpal and fifth middle phalanx, samllness of extremities, and delayed bone age.