1. Johnson-McMillin syndrome: report of another family
- Author
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Frank J. A. M. Holtus, Raoul C.M. Hennekam, and Other departments
- Subjects
Adult ,Male ,medicine.medical_specialty ,Hearing loss ,Facial Paralysis ,Hearing Loss, Conductive ,Dental Caries ,Olfaction Disorders ,Hyposmia ,Intellectual Disability ,Café au lait spot ,medicine ,Humans ,Growth Disorders ,Genetics (clinical) ,Genes, Dominant ,business.industry ,Microtia ,Alopecia ,Ear ,Syndrome ,medicine.disease ,Dermatology ,Facial paralysis ,Johnson–McMillin syndrome ,Child, Preschool ,Facial nerve palsy ,Hypotrichosis ,Female ,medicine.symptom ,business ,Pigmentation Disorders - Abstract
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].
- Published
- 1993
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