An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay.
We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
Chitty
L S
LS
Department of Clinical Genetics, Institute of Child Health, London.
Hall
C M
CM
Webb
P J
PJ
Baraitser
M
M
D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D050723:Fractures, Bone / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging