Johnson-McMillin syndrome: report of another family.
We describe a mother and son with facial nerve palsy, multiple truncal café-au-lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497-506] and Johnston et al. [1987: Am J Med Genet 26:925-927].
Hennekam
R C
RC
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Holtus
F J
FJ
D000328:Adult; D000505:Alopecia / Q000235:genetics; D002675:Child, Preschool; D003731:Dental Caries / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D000857:Olfaction Disorders / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics; D013577:Syndrome