Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.
We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.
Elçioğlu
N
N
Department of Genetics, Cerrahpasa Medical School, Istanbul, Turkey.
Karatekin
G
G
Sezgin
B
B
Nuhoğlu
A
A
Cenani
A
A
D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases; D017689:Polydactyly / Q000000981:diagnostic imaging; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging / Q000503:physiopathology*; D014427:Twins