Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly

Clinical Genetics
Nursel ElçioğluA Cenani

Abstract

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.

References

Feb 1, 1977·Radiology·P NaumoffA J Amortegui
Sep 1, 1992·American Journal of Medical Genetics·Y C TsaiC B Huang
Nov 1, 1991·American Journal of Medical Genetics·S R HingoraniR P Kapur
Jun 11, 1991·American Journal of Medical Genetics·S S YangL O Langer
Jun 1, 1991·American Journal of Medical Genetics·A E LinK L Filkins
Aug 1, 1991·American Journal of Medical Genetics·R C Hennekam
Jan 1, 1990·Advances in Human Genetics·J Spranger, P Maroteaux
May 1, 1988·Journal of Medical Genetics·R M Winter
Mar 1, 1985·Radiology·A SchinzelG Schubiger
Feb 1, 1972·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·R M Saldino, C D Noonan
Jan 1, 1983·American Journal of Medical Genetics·F A BeemerC C Haws
May 1, 1995·Nature Genetics·F RousseauM Sanak
Jan 1, 1994·American Journal of Medical Genetics·M UriosteA Villa
Mar 1, 1994·Nature Genetics·M VelinovP Tsipouras
Mar 1, 1994·Nature Genetics·M Le MerrerA Munnich
Apr 1, 1994·Nature Genetics·M UriosteC Nieto
Jan 1, 1994·American Journal of Medical Genetics·M BronsteinA Drugan
May 1, 1994·American Journal of Medical Genetics·I W Lurie
Nov 1, 1993·Journal of Medical Genetics·M L Martínez-FríasI Arroyo
Jun 15, 1993·American Journal of Medical Genetics·R E BrennerW M Teller
May 15, 1993·American Journal of Medical Genetics·D CideciyanJ H Bruce
Jan 1, 1995·European Journal of Human Genetics : EJHG·W A Horton

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Citations

Apr 1, 2000·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·G M Vujanic, N C Hunt

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Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
G M Vujanic, N C Hunt
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