Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population

Prenatal Diagnosis

Volumn 30, Issue 1, 2010, Pages 49-56

  Navti, O B ^a   Kinning, E ^a   Vasudevan, P ^a   Barrow, M ^a   Porter, H ^a   Howarth, E ^a   Konje, J ^a   Khare, M ^a  

^a LEICESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Arthrogryposis; Perinatal management; Prenatal diagnosis

Indexed keywords

ARTHROGRYPOSIS; ASIAN; CADAVER; CENTRAL AMERICA; CESAREAN SECTION; CLINICAL ARTICLE; CLINICAL GENETICS; DELIVERY; ETHNICITY; FAMILY HISTORY; FEMALE; GESTATIONAL AGE; HUMAN; INFANT; NEWBORN; NULLIPARA; PERINATAL CARE; PREVALENCE; PRIORITY JOURNAL; REVIEW; TEACHING HOSPITAL; UNITED KINGDOM;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ARTHROGRYPOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; GESTATIONAL AGE; GREAT BRITAIN; HOSPITALS, TEACHING; HUMANS; INFANT, NEWBORN; PEDIGREE; PREGNANCY; PREGNANCY OUTCOME; PREVALENCE; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 75149166249     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2411     Document Type: Review

References (15)

1. Baty BJ, Cubberley D, Morris C, et al. 1989. Prenatal diagnosis of distal arthrogryposis. Am J Med Genet 29: 501-510.
2. Chen H, Blackburn WR, Wertelecki W. 1995. Fetal akinesia and multiple perinatal fractures. Am J Med Genet 55: 472-477.
3. Fahy MJ, Hall JG. 1990. A Retrospective study of pregnancy complications among 828 cases of Arthrogryposis. Genet Couns 1(1): 3-11.
4. Hall JG. 1984. The lethal multiple pterygium syndromes. Am J Med Genet 17: 803.
5. Hall JG. 1985. Genetic aspects of arthrogryposis. Clin Orthop 194: 44-53.
6. Hurst J, Firth H, Hall J. 2005. Oxford Desk Reference Clinical Genetics (Oxford Desk Reference Series). OUP: Oxford; 48.
7. Hyett J, Noble P, Sebire N, et al. 1997. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 9(5): 310-313.
8. Kurjak A, Vecek N, Hafner T, et al. 2002. Prenatal diagnosis: what does four-dimensional ultrasound add? J Perinat Med 30: 57-82.
9. Laitinen O, Hirvensalo M. 1966. Arthrogryposis multiplex congenital. Ann Paediatr Fenn 12: 133-138.
10. Madazli R, Tuysuz B, Aksoy F, et al. 2002. Prenatal Diagnosis of Arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology. Fetal Diagn Ther 17(1): 29-33.
11. Narkis G, Ofir R, Landau D, et al. 2007. Lethal Contractual Syndrome Type 3(LCCS3) is caused by a mutation in PIP5K1C which encodes PIPKIγ of the phophatidylinsitol pathway. Am J Hum Genet 81(3): 530-539.
12. Scott H, Hunter A, Bedard B. 1999. Non lethal arthrogryposis presenting with cystic hygroma at 13 weeks gestational age. Prenat Diagn 19(10): 966-971.
13. Sheizaf B, Mazor M, Landau D, et al. 2007. Early sonographic prenatal diagnosis of seizures. Ultrasound Obstet Gynecol 30: 1007-1009.
14. Sung S, Brassington A, Grannatt K, et al. 2003. Mutations in genes encoding fast twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72: 681-690.
15. Veugelers M, Bressan M, McDermott DA, et al. 2004. Mutation of perinatal myosin heavy chain associated with a carney complex variant. N Engl J Med 351: 460-469.