Spondylo-camptodactyly syndrome: a distinct autosomal dominant entity?
We present a family in which five members over three generations have a syndrome characterized by camptodactyly, flattened bodies of cervical vertebrae, and a variable degree of thoracic scoliosis. After excluding other camptodactyly syndromes, it was concluded that this association of anomalies probably represents a new autosomal dominant syndrome.
Lizcano-Gil
L A
LA
Maestría en Genética Humana, Universidad de Guadalajara, Jalisco, México.
García-Cruz
D
D
Sánchez-Corona
J
J
Cantú
J M
JM
D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome