Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?
We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.
Antich
J
J
Secció de Genética, Hospital Sant Joan de Deu, Barcelona, Spain.
Iriondo
M
M
Lizarraga
I
I
Manzanares
R
R
Cusi
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001006:Anus, Imperforate / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005269:Femur / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013580:Synostosis / Q000000981:diagnostic imaging