SHORT RIB POLYDACTYLY SYNDROME IN TWINS - BEEMER-LANGER TYPE WITH POLYDACTYLY

Citation
N. Elcioglu et al., SHORT RIB POLYDACTYLY SYNDROME IN TWINS - BEEMER-LANGER TYPE WITH POLYDACTYLY, Clinical genetics, 50(3), 1996, pp. 159-163
Citations number
31
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
50
Issue
3
Year of publication
1996
Pages
159 - 163
Database
ISI
SICI code
0009-9163(1996)50:3<159:SRPSIT>2.0.ZU;2-C
Abstract
We present premature female twin fetuses with concordant extremely sho rtened ribs, shea Limbs, macrocephaly, median cleft upper lip and faci al dysmorphism. Based on radiological criteria and the pattern of asso ciated abnormalities, a lethal short rib-polydactyly syndrome (Beemer- Langer type) was diagnosed. The differential diagnosis of this entity is discussed.