title: Severe, atypical form of dyschondrosteosis (report of two cases).
abstract: We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found.
  
  
  CONCLUSIONS
  Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.
authors.affiliation: Department of Radiology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Bieganski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Bik
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Celine
authors.initials: C
authors.lastname: Huber
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Nowicki
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011859:Radiography; D012720:Severity of Illness Index; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors