Severe, atypical form of dyschondrosteosis (report of two cases).
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.
Bieganski
Tadeusz
T
Department of Radiology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Bik
Krzysztof
K
Cormier-Daire
Valerie
V
Huber
Celine
C
Nowicki
Grzegorz
G
Kozlowski
Kazimierz
K
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*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors