Elçioğlu N, Karatekin G, Sezgin B, Nuhoğlu A, Cenani A
Department of Genetics, Cerrahpasa Medical School, Istanbul, Turkey.
Clin Genet. 1996 Sep;50(3):159-63. doi: 10.1111/j.1399-0004.1996.tb02373.x.
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.