Two sibs with fibrochondrogenesis

American Journal of Medical Genetics

Volumn 127, Issue 3, 2004, Pages 318-320

  Leeners, Brigitte ^a,b   Funk, Andreas ^a   Cotarelo, Christina L ^a   Sauer, Itta ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

Fibrochrondrogenesis; Inheritance; Lethal chondrodysplasias

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE GROWTH; BONE MATURATION; CARTILAGE; CASE REPORT; CHONDRODYSPLASIA; CONSANGUINEOUS MARRIAGE; FEMALE; FIBROCHONDROGENESIS; GENETIC DISORDER; HUMAN; NEWBORN; PRIORITY JOURNAL;

EID: 2542469967     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20620     Document Type: Article

References (13)

1. Al-Gazali LI, Bakalinova D, Bakir M, Dawodu A. 1997. Fibrochondrogenesis: Clinical and radiological features. Clin Dysmorphol 6:157-163.
2. Al-Gazali LI, Bakir M, Dawody A, Haas D. 1999. Recurrence of fibrochondrogenesis in a consanguineous family. Clin Dysmorphol 8:59-61.
3. Bankier A, Fortune D, Duke J, Sillence DO. 1991. Fibrochondrogenesis in male twins at 24 weeks gestation. Am J Med Genet 38:95-98.
4. Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL. 1984. Fibrochondrogenesis: Radiological and histological studies. Am J Med Genet 19:277-290.
5. Goncalves L, Jeanty P. 1994. Fetal biometry of skeletal dysplasias: A multicentric study. J Ultrasound Med 13:977-985.
6. Gordienko IY, Grechanina AY, Sopko NI, Tarapurova EN, Mikchailets LP. 1996. Prenatal diagnosis of ssteochondrodysplasias in high risk pregnancy. Am J Med Genet 63:90-97.
7. Hunt NCA, Vujanic GM. 1998. Fibrochondrogenesis in a 17-week fetus: A case expanding the phenotype. Am J Med Genet 75:326-329.
8. Lazzaroni-Fossati F, Stanescu V, Stanescu R, Serra G, Magliano P, Maroteaux P. 1978. La fibrochondrogenese. Arch Fr Pediatr 35:1096-10104.
9. Martinéz-Frías ML, Garcia A, Cuevas J, Rodriguez JI, Urioste M. 1996. A new case of fibrochondrogenesis from Spain. J Med Genet 33:429-431.
10. Mégarbané A, Haddad S, Berjaoui L. 1998. Prenatal ultrasonography: Clinical and radiological findings in a boy with fibrochondrogenesis. Am J Perinatol 15:403-407.
11. Randrianaivo H, Haddad G, Roman H, Delezoide AL, Toutain A, Le Merrer M, Moraine C, Lise A. 2002. Fetal fibrochondrogenesis at 26 weeks' gestation. Prenat Diagn 22:806-810.
12. Tretter AE, Saunders RC, Meyers CM, Dungan JS, Grumbach K, Sun CJ, Campbell AB, Wulfsberg EA. 1998. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 75:518-522.
13. Whitley CB, Langer LO, Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R, Horton WA, Opitz JM, Gorlin RJ. 1984. Fibrochondrogenesis: Lethal autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Am J Med Genet 19:265-275.