Diagnosis of hypochondroplasia: The role of radiological interpretation

Pediatric Radiology

Volumn 31, Issue 3, 2001, Pages 203-208

  Prinster, Chiara ^a   Maschio, Maurizia Del ^a   Beluffi, Giampiero ^b   Maghnie, Mohamad ^c   Weber, Giovanna ^a   Maschio, Alessandro Del ^a   Chiumello, Giuseppe ^a   Mora, S ^d  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d Laboratory of Pediatric Endocrinology   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; RESTRICTION ENDONUCLEASE;

ARTICLE; BODY HEIGHT; BONE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HAND RADIOGRAPHY; HEAD CIRCUMFERENCE; HUMAN; HYPOCHONDROPLASIA; LEG; LUMBAR SPINE; MALE; MEASUREMENT; MEDICAL LITERATURE; MOLECULAR BIOLOGY; PATIENT SELECTION; PELVIS RADIOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGIST; RELIABILITY; RISK; SHORT STATURE; SITTING; SKELETON MALFORMATION; SPINE RADIOGRAPHY;

ACHONDROPLASIA; BONE AND BONES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; PHENOTYPE; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; REPRODUCIBILITY OF RESULTS;

EID: 0035096055     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470000398     Document Type: Article

References (14)

1. Hypochondroplasia
2. Achondroplasia and hypochondroplasia: Clinical variation and spinal stenosis
3. Skeletal dysplasias
4. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
5. A common FGFR3 gene mutation in hypochondroplasia
6. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
7. Clinical and genetic heterogeneity of hypochondroplasia
8. Comparison of clinical-radiological and molecular findings in hypochondroplasia
9. Genotype and phenotype in hypochondroplasia
10. Hypochondroplasia: Clinical and radiological aspects in 39 cases
11. Hypochondroplasia: Review of 80 cases
12. Hypochondroplasia
13. Growth and growth hormone therapy in hypochondroplasia