Familial broad terminal phalanges with one individual showing additional anomalies.
We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait.
Pavone
L
L
Clinica Pediatrica Università di Catania, Italy.
Sorge
G
G
Pavone
V
V
Rizzo
R
R
Ruggieri
M
M
Polizzi
A
A
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005885:Gingival Hyperplasia / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000235:genetics; D010375:Pedigree; D014034:Toes / Q000002:abnormalities*