Sheldon-Hall syndrome

Orphanet Journal of Rare Diseases

Volumn 4, Issue 1, 2009, Pages

  Toydemir, Reha M ^a   Bamshad, Michael J ^b,c  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CAMPTODACTYLY; CLINICAL FEATURE; CONTRACTURE; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FAMILY HISTORY; GENE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIFE EXPECTANCY; MEDICAL LITERATURE; MOLECULAR GENETICS; MUTATION; MYH3 GENE; OCCUPATIONAL THERAPY; PHYSIOTHERAPY; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; SHELDON HALL SYNDROME; SHORT STATURE; SKELETAL MUSCLE; TNNI2 GENE; TNNT3 GENE; CHILD; CONGENITAL MALFORMATION; FACE; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; SYNDROME;

CYTOSKELETON PROTEIN; MYH3 POLYPEPTIDE, HUMAN; TNNT3 PROTEIN, HUMAN; TROPONIN T;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHILD; CONTRACTURE; CYTOSKELETAL PROTEINS; FACE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MUSCLE, SKELETAL; PHENOTYPE; SYNDROME; TROPONIN T;

EID: 63849147318     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-4-11     Document Type: Article

References (14)

1. Cranio-carpotarsal dystrophy: Undescribed congenital malformation. EA Freeman JH Sheldon, Archives of Disease in Childhood 1938 13 277 283 10.1136/adc.13.75.277
2. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. PA Krakowiak JR O'Quinn JF Bohnsack WS Watkins JC Carey LB Jorde M Bamshad, American Journal of Human Genetics 1997 60 426 432 9012416
3. The distal arthrogryposes: delineation of new entities-review and nosologic discussion. JG Hall SD Reed G Greene, American Journal of Medical Genetics 1982 11 185 239 10.1002/ajmg.1320110208 7039311
4. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). PA Krakowiak JF Bohnsack JC Carey M Bamshad, American Journal of Medical Genetics 1998 76 93 98 10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0. CO;2-K 9508073
5. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. RM Toydemir A Rutherford FG Whitby LB Jorde JC Carey MJ Bamshad, Nature Genetics 2006 38 561 565 10.1038/ng1775 16642020
6. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. SS Sung AE Brassington K Grannatt A Rutherford FG Whitby PA Krakowiak LB Jorde JC Carey M Bamshad, American Journal of Human Genetics 2003 72 681 690 12592607 10.1086/368294
7. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. SS Sung AE Brassington PA Krakowiak JC Carey LB Jorde M Bamshad, American Journal of Human Genetics 2003 73 212 214 12865991 10.1086/376418
8. A TNNI2 mutation in a family with distal arthrogryposis type 2B. AE Shrimpton JJ Hoo, European Journal of Medical Genetics 2006 49 201 206 10.1016/j.ejmg.2005.06.003 16497570
9. Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. B Drera N Zoppi S Barlati M Colombi, Clinical Genetics 2006 70 532 534 10.1111/j.1399-0004.2006.00713.x 17101001
10. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. M Jiang X Zhao W Han C Bian X Li G Wang Y Ao Y Li D Yi Y Zhe, Human Genetics 2006 120 238 242 10.1007/s00439-006-0183-4 16802141
11. Mutations in fast skeletal troponin I, troponin T, and -tropomyosin that cause distal arthrogryposis all increase contractile function. P Robinson S Lipscomb LC Preston E Altin H Watkins CC Ashley CS Redwood, FASEB Journal 2007 21 896 905 10.1096/fj.06-6899com 17194691
12. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. M Jiang C Bian X Li X Man W Ge W Han H Bao Y Li D Yi Y Guan, Prenatal Diagnosis 2007 27 468 470 10.1002/pd.1705 17380469
13. A revised and extended classification of the distal arthrogryposes. M Bamshad LB Jorde JC Carey, American Journal of Medical Genetics 1996 65 277 281 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M 8923935
14. Clinical characteristics and natural history of Freeman-Sheldon syndrome. DA Stevenson JC Carey J Palumbos A Rutherford J Dolcourt MJ Bamshad, Pediatrics 2006 117 754 762 10.1542/peds.2005-1219 16510655