Gracile bone dysplasias

Pediatric Radiology

Volumn 32, Issue 9, 2002, Pages 629-634

  Kozlowski, Kazimierz ^a   Masel, John ^b   Sillence, David O ^c   Arbuckle, Susan ^a   Juttnerova, Vera ^d  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d Oddeleni Lekarske Genetiky   (Czech Republic)

Author keywords

Bone dysplasia; Fractures; Gracile; Newborn; Osteocraniostenosis

Indexed keywords

ARTICLE; AUTOPSY; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FACE DYSMORPHIA; FEMALE; FRACTURE; GENETIC COUNSELING; HUMAN; MALE; MEDICOLEGAL ASPECT; MICROMELIA; NEWBORN; OLIGOHYDRAMNIOS; PHALANX HYPOPLASIA; PRIORITY JOURNAL; ULTRASOUND;

BONE DISEASES, DEVELOPMENTAL; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; MALE;

EID: 0036935898     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-002-0719-2     Document Type: Article

References (15)

1. Rimoin DL, Francomano CA, Giedion A, et al (1998) International nomenclature and classification of the osteochondrodysplasias 1997. Am J Med Genet 79:376-382
2. Bonaventure J, Zylberberg L, Cohen-Solal L, et al (1989) A new lethal brittle bone syndrome with increased amount of type V collagen in a patient. Am J Med Genet 33:299-310
3. Chen H, Blackburn WR, Wertelecki W (1995) Fetal akinesia and multiple perinatal fractures. Am J Med Genet 55:472-477
4. Costa T, Azouz EM, Fitzpatrick J, et al (1988) Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition. Am J Med Genet 76:125-132
5. Kozlowski K, Kan A (1988) Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures. A new syndrome. Pediatr Radiol 18:394-398
6. Maroteaux P, Cohen-Solal L, Bonaventure J, et al (1988) Syndromes letaux avec gracilite du squelette. Arch Fr Pediatr 45:477-481
7. Rodriguez JI, Garcia-Alix A, Palacios J, et al (1988) Changes in the long bones due to fetal immobility caused by neuromuscular disease. A radiographic and histological study. J Bone Joint Surg Am 70:1052-1060
8. Rodriguez JI, Palacios J (1991) Pathogenic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. Am J Med Genet 40:284-289
9. Thomas JA, Rimoin DL, Lachman RS, et al (1998) Gracile bone dysplasia. Am J Med Genet 75:95-100
10. Verloes A, Narcy F, Grattagliano B, et al (1994) Osteocraniostenosis. J Med Genet 31:772-778
11. Sillence DO (1988) Osteogenesis imperfecta. Nosology and genetics. Ann NY Acad Sci 543:1-15
12. Sillence DO, Barlow KK, Garber AP, et al (1984) Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17:407-423
13. Cohen M Jr (1991) Hallermann-Streiff syndrome: a review. Am J Med Genet 41:488-499
14. Kozlowski K, Sutcliffe J, Barylak A, et al (1976) Hypophosphatasia. Review of 24 cases. Pediatr Radiol 5:103-117
15. Zurutuza L, Muller F, Gibrat JF, et al (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8:1039-1046