Sponastrime dysplasia: Presentation in infancy [12]

Journal of Medical Genetics

Volumn 38, Issue 12, 2001, Pages 889-893

  Offiah, A C ^a   Lees, M ^a   Winter, R M ^a   Hall, C M ^a  

^a Children's Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DYSPLASIA; BONE RADIOGRAPHY; BONE REMODELING; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; LETTER; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SPONASTRIME DYSPLASIA;

BIRTH WEIGHT; BODY HEIGHT; CESAREAN SECTION; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GROWTH DISORDERS; HIP DISLOCATION; HIP JOINT; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MUSCULOSKELETAL ABNORMALITIES; PRENATAL DIAGNOSIS; SPINE;

EID: 0035666046     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (19)

1. A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia
2. Sponastrime dysplasia: Five new cases and review of nine previously published cases
3. Sponastrime dysplasia: Diagnostic criteria based on five new and six previously published cases
4. Sponastrime dysplasia: Report of an 11-year-old boy and review of the literature
5. Sponastrime dysplasia: A radiologic-pathologic correlation
6. The Sponastrime dysplasia: Familial short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
7. Sponastrime dysplasia: Report on a male patient
8. Sponastrime dysplasia: Report on a female patient with severe skeletal changes
9. Another observation of Langer-type sponastrime dysplasia variant
10. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations
11. Sponastrime dysplasia: Report on two siblings with mental retardation
12. Heterogeneity of Sponastrime dysplasia: Delineation of a variant form with severe mental retardation
13. MRI of focal fibrocartilaginous dysplasia causing tibia vara
14. Focal fibrocartilaginous dysplasia in the upper extremity
15. Tibia vara caused by focal fibrocartilaginous dysplasia. Three case reports
16. Identification and immunolocalization of type X collagen at the ligament-bone interface
17. Tibia vara due to focal fibrocartilaginous dysplasia. The natural history
18. Metacarpophalangeal length in the evaluation of skeletal malformation
19. Applications of the pattern variability index (OZ) to the quantification of dysmorphogenesis in the hand