[The Tel Hashomer camptodactyly syndrome].
Tel Hashomer camptodactyly syndrome in 2 siblings was described for the first time in Russian literature. Together with camptodactyly flexion folds between phalanges were absent in patients and characteristic face alterations were presented such as asymmetry, hypertelorism, antimongolian ophthalmic eyes cut, high ridge of the nose. There were also observed diffuse skeletal musculature hypoplasia together with humeroradial muscle aplasia as well as two-sides talipes. Inheritance type of syndrome in this family was estimated as autosomal-recessive.
E G
EG
Rogovina
Iu N
IuN
Aver'ianov
N P
NP
Nechkina
L V
LV
Logunova
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities; D013577:Syndrome
Sindrom kamptodaktilii Tel' Khashomera.