Sponastrime dysplasia: Five new cases and review of nine previously published cases

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 20-27

  Langer Jr , Leonard O ^a   Beals, Rodney K ^b   LaFranchi, Stephen ^b   Scott Jr , Charles I ^c   Sockalosky, Joseph J ^d  

^a UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d Children's Health Care St Paul ^*  (United States)

Author keywords

autosomal recessive; developmental coxa vara; dwarfism; familial; osteochondrodysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; COXA VARA; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DWARFISM; FAMILIAL DISEASE; FEMALE; FEMUR EPIPHYSIS; HUMAN; INFANT; MALE; PRIORITY JOURNAL; TRACHEOBRONCHOMEGALY;

ADOLESCENT; BONE AND BONES; BONE DEVELOPMENT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DWARFISM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LUMBAR VERTEBRAE; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0029870865     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W     Document Type: Article

References (6)

1. Camera G, Camera A, DiRocco M, Gatti R (1993): Sponastrime dysplasia: Report on two siblings with mental retardation. Pediatr Radiol 23:611-614.
2. Camera G, Camera A, Pozzolo S, Costa P (1994): Sponastrime dysplasia: Report on a male patient. Pediatr Radiol 24:322-324.
3. Fanconi S, Issler C, Giedion A, Prader A (1983): The SPONASTRIME dysplasia: Familial short-limb dwarfIsm with saddle nose, spinal alterations and metaphyseal striation: Report of four siblings. Helv Paediat Acta 38:267-280.
4. Lachman RS, Stöß H, Spranger J (1989): Sponastrime dysplasia. A radiologic-pathologic correlation. Pediatr Radiol 19:417-424.
5. Langer L, Beals R, Scott C: Sponastrime dysplasia: Diagnostic criteria based on five new cases and six previously published cases. Pediatr Radiol (in press).
6. Verloes A, Misson JP, Dubru JM, Jamblin P, Le Merrer M (1995): Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation. Clin Dysmorphol 4:208-215.