Lorenz P, Hinkel G K, Hoffmann C, Rupprecht E
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
Am J Med Genet. 1990 Oct;37(2):224-6. doi: 10.1002/ajmg.1320370211.
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.