Kapur-Toriello syndrome: further delineation.
We report on a Mexican patient with mental retardation, cleft lip and palate, and facial anomalies characteristic of Kapur-Toriello syndrome described in 1991 by Kapur and Toriello in two sibs. The condition was considered a previously undescribed autosomal recessive disorder and only one patient has been reported since that time. The clinical manifestations observed in our patient confirm some characteristics as part of the entity. In view of rarity, it is necessary to describe additional cases.
Yokoyama
Emiy
E
Departamento de Genética Humana, Instituto Nacional de Pediatría, México, DF, México.
Martínez
Angélica
A
González-Del Angel
Ariadna
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome