Böök syndrome
From WikiLectures
Synonyms: PHC syndrome, aplasia of premolars, hyperhidrosis.
Named after the Swedish geneticist Jan Böök who first described the disease in 1950.[1]
Genetics:
- OMIM: 112300
- Inheritance is probably autosomal dominant with high penetrance.[1]
Characteristics:
- premature greying,
- palmar and plantar hyperkeratosis,
- hypodontia,
- aplasia of premolars.
Links[edit | edit source]
Reference[edit | edit source]
- ↑ a b BOOK, J A. Clinical and genetical studies of hypodontia. I. Premolar aplasia, hyperhidrosis, and canities prematura; a new hereditary syndrome in man. Am J Hum Genet [online]. 1950, y. 3, p. 240-63, Available from <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1716355/?tool=pubmed>. ISSN 0002-9297.
References[edit | edit source]
- LAZOVSKIS, Ilmars – DOBIÁŠ, Václav. Overview of clinical symptoms and syndromes. 2. edition. Avicenum, zdravotnické nakladatelství, 1990. 0 pp. ISBN 80-201-0043-1.
