New mesomelic dysplasia with absent fibulae and triangular tibiae.
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular-shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated.
Savarirayan
R
R
Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA. savarirr@cryptic.rch.unimelb.edu.au
Cormier-Daire
V
V
Curry
C J
CJ
Nashelsky
M B
MB
Rappaport
V
V
Rimoin
D L
DL
Lachman
R S
RS
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D011859:Radiography; D013977:Tibia / Q000002:abnormalities*