A boy with severe manifestations of type A1 brachydactyly

Clinical Dysmorphology

Volumn 7, Issue 1, 1998, Pages 21-27

  Slavotinek, Anne ^a   Donnai, Dian ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

HOX genes; Type A1 brachydactyly

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE MALFORMATION; BRACHYDACTYLY; CASE REPORT; CHILD; DISEASE SEVERITY; GENE MUTATION; HUMAN; MALE; MULTIGENE FAMILY; NYSTAGMUS; PRIORITY JOURNAL; STRABISMUS;

EID: 0031974953     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199801000-00004     Document Type: Article

References (8)

1. Drinkwater H (1915). A second brachydactylous family. J Genetics 4:323-348.
2. Fitch N (1979). Classification and identification of inherited brachydactylies. J Med Genet 16:36-44.
3. Haws DV, McKusick VA (1963). Farabee's brachydactylous kindred revisited. BullJohn Hopkins Hasp 113:20-30.
4. Mastrobattista JM, Dollé P, Blanton SH, Northrup H (1995). Evaluation of candidate genes for familial brachydactyly. JMed Genet 32:851-854.
5. Opitz JM, Gilbert EF (1985). Clinical report: Autopsy findings in a stillborn female infant with the OseboldRemondini syndrome. Am J Med Genet 32:811-819.
6. Osebold WR, Remondini DJ, Lester EL, Spranger JW, Opitz JM (1985). An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. Am J Med Genet 22:791-809.
7. Sillence DO (1978). Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome. J Med Genet 15:208-211.
8. Temtamy SA, McKusick VA (1978). Brachydactyly as an isolated malformation. In Bergsma D, Mudge JR, Paul NW, Greene SC (editors): Tlie Genetics of Hand Malformations, Birth Defects Original Article Series, XIV New York: Alan R. Liss; pp. 187-197; p. 202.