| Literature DB >> 8267002 |
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].Entities:
Mesh:
Year: 1993 PMID: 8267002 DOI: 10.1002/ajmg.1320470526
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299