Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.
A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III.
Figuera
L E
LE
División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. lef@koch.mb.udg.mx
Ramírez-Dueñas
M L
ML
Dávalos
I P
IP
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D019066:Facies; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics* / Q000473:pathology; D008297:Male; D008800:Mexico; D010375:Pedigree; D016135:Spinal Dysraphism / Q000235:genetics / Q000473:pathology; D013131:Spine / Q000002:abnormalities*