Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.
We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.
Giannotti
A
A
Department of Medical Genetics and Cardiology, Bambino Gesù Hospital, Rome, Italy.
Digilio
M C
MC
Mingarelli
R
R
Marino
B
B
Dallapiccola
B
B
D000015:Abnormalities, Multiple; D000273:Adipose Tissue; D002648:Child; D019465:Craniofacial Abnormalities; D019066:Facies; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D008875:Middle Aged; D013577:Syndrome