The craniodigital syndrome of Scott: report of a second family.
We report on a boy with a characteristic combination of facial anomalies, syndactylies of fingers and toes, and mental retardation. Scott et al. (Journal of Pediatrics 78:658-663, 1971) observed 3 brothers with almost identical manifestations. The mother of these patients had bilateral syndactyly of toes 2 and 3. This led the authors to suggest X-linked inheritance. The mother of our patient also has cutaneous syndactyly between the second and third toes, strengthening the hypothesis of X-linked inheritance.
Lorenz
P
P
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
Hinkel
G K
GK
Hoffmann
C
C
Rupprecht
E
E
D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014960:X Chromosome