Book syndrome is characterised by premolar aplasia, hyperhidrosis, and premature greying of the hair. It has been reported in 25 affected individuals from four generations of a Swedish family and in one isolated case. The isolated case also displayed additional features: a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Inheritance is autosomal dominant with high penetrance.
Quelle: Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1997. Available on http://www.orpha.net. Accessed 07.04.2014
Flacher Gaumen, Zahnanomalien (fehlende Prämolaren)
- 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. 2: 240-263, 1950. PMID 14810689
- Salinas, C. F., Sahn, E. E., Richards, M. A., Hutchins, H. S., Jr.Congenitally missing teeth and severe hyperhidrosis: Book syndrome or a new ectodermal dysplasia syndrome?J. Dysmorph. Clin. Genet. 6: 59-63, 1992.