Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
Two siblings from China have been observed with severe short stature of prenatal onset and developmental delay. The radiographic features were characteristic of Desbuquois syndrome. The association of a genetic skeletal dysplasia and developmental delay is a relatively rare combination, although this syndrome is readily diagnosable from its distinctive radiographic features.
Lam
W F
WF
Child Assessment Service, Department of Health, United Christian Hospital, Hong Kong, SAR, China. wflam@hingtekhong.com.hk
Chan
H B
HB
Sillence
D O
DO
D000015:Abnormalities, Multiple / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D003241:Consanguinity; D002658:Developmental Disabilities / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D011859:Radiography; D018570:Risk Assessment; D035781:Siblings; D013577:Syndrome