Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: A new type of skeletal dysplasia?

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 856-858

  Moog, U ^a   Maroteaux, P ^b   Schrander Stumpel, C T R M ^a   Van Ooij, A ^a   Schrander, J J P ^a   Fryns, J P ^a,c  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Dentinogenesis imperfecta; Multiple fractures; Osteogenesis imperfecta; Skeletal dysplasia

Indexed keywords

COLLAGEN;

ARTICLE; BONE DYSPLASIA; CASE REPORT; FEMALE; FRACTURE; HUMAN; HYPEROSTOSIS; MALE; ORBIT; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; SKULL DEFECT; TIBIA; TOOTH MALFORMATION;

BONE AND BONES; BONE DISEASES; CHILD; CHILD, PRESCHOOL; COLLAGEN; FEMALE; HUMANS; MALE; OSTEOGENESIS IMPERFECTA;

WORMIA;

EID: 0032752467     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Suarez CR, Stickler GB, Case report 22. Syndr Ident 1974;2:9-11.
2. Nuytinck L, Coppin C, De Paepe A. A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. Matrix Biol 1998;16:349-52.
3. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
4. Sillence DO. Disorders of bone density, volume, and mineralization. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Medical genetics. New York: Churchill Livingstone, 1996:2817-22.
5. Byers P. Osteogenesis imperfecta. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders. New York: Wiley-Liss, 1993:317-50.
6. Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433-42.
7. De Paepe A, Nuytinck L, Raes M, Fryns JP Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. Hum Genet 1997;99:478-83.
8. Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 1998;62:98-110.
9. Herrmann J, Zugive FT, Gilbert EF, Opitz JM. Arthrodento-osteodysplasia (Hajdu-Cheney syndrome): review of a genetic "acro-osteolysis"' syndrome- Z Kinderheilkd 1973;114:93-110.
10. Kaplan P, Ramos F, Zackai EH, Bellah RD, Kaplan BS. Cystic kidney disease in Hajdu-Cheney syndrome. Am J Med Genet 1995;56:25-30.
11. Fryns JP, Stinckens C, Feenstra L. Vocal cord paralysis and cystic kidney disease in Hajdu-Cheny syndrome. Clin Genet 1997;51:271-4.