A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.
Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.
Kozlowski
K
K
Department of Radiology, Royal Alexandra Hospital for Children, Sidney, NSW, Australia.
Brown
J
J
Hardwick
R
R
Sillence
D
D
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D007223:Infant; D011859:Radiography; D013577:Syndrome; D014429:Twins, Dizygotic