Acrodysostosis: Autosomal dominant transmission

Indian Pediatrics

Volumn 42, Issue 8, 2005, Pages 822-826

  Sheela, S R ^a,b   Perti, Ajai ^a   Thomas, Grace ^a  

^a Indira Gandhi Co operative Hospital   (India)

^b NONE   (India)

Author keywords

Acrodysostosis; First ray hyperplasia of foot; Peripheral dysostosis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; CALVARIA; CASE REPORT; CHILD; CLINICAL FEATURE; HUMAN; LABORATORY TEST; MALE; MANDIBLE; PHYSICAL EXAMINATION; SKULL RADIOGRAPHY;

CHILD, PRESCHOOL; CHROMOSOME DISORDERS; DYSOSTOSES; EPIPHYSES; FOOT DEFORMITIES, CONGENITAL; GENES, DOMINANT; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERPLASIA; MALE; MENTAL RETARDATION; SYNDROME;

EID: 23944508492     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

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2. Robinow M, Pfeiffer RA, Gorlin RJ, Mc Kusick VA, Renuart AW, Johnson GF, et al. Acrodysostosis: A syndrome of peripheral dysostosis, nasal hypoplasia and mental retardation. Am J Dis Child 1971; 121: 195-203.
3. Jones KL. Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia, W B Saunders Company, 1997; pp 444-445.
4. Butler MG, Rames LJ, Wadlington WB. Acrodysostosis: Report of a 13-year-old boy with review of literature and Metacarpophalangeal Pattern Profile Analysis. Am J Med Genet 1988; 30: 971-980.
5. Hernande RM, Miranda A, Kofman-Alfaro S. Acrodysostosis in two generations: An autosomal dominant syndrome. Clin Genet 1991; 39: 376-382.
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7. Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutations: data on additional disorders. J Pediatr 1975; 86: 84-88.
8. Graham JM, Krakow D, Tolo VT, Smith AK, Lachman RS. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 2001; 31: 2-9.