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DOI http://dx.doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.3.CO;2-#
Title Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Creator/Author Kimonis, V.E. ; Yang, M.L. ; Bale, S.J. [National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD (United States)][and others]
Publication Date1997 Mar 31
OSTI IdentifierOSTI ID: 526004
Other Number(s)AJMGDA; ISSN 0148-7299
Resource TypeJournal Article
Resource RelationAmerican Journal of Medical Genetics ; VOL. 69 ; ISSUE: 3 ; PBD: 31 Mar 1997
Subject55 BIOLOGY AND MEDICINE, BASIC STUDIES ; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; CARCINOMAS; CONGENITAL MALFORMATIONS; HUMAN CHROMOSOME 9; GENETIC MAPPING; GENES; GENE MUTATIONS; DIAGNOSIS; DOMINANT MUTATIONS; STATISTICS; GENETICS
Description/Abstract Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to>1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include{open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.
Country of PublicationUnited States
LanguageEnglish
Formatpp. 299-308 ; PL:
System Entry Date2001 May 05

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