Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia


Ceylaner G., Gueven M. A., Ceylaner S., Uzel M., Mueftueoglu K.

PRENATAL DIAGNOSIS, vol.27, no.6, pp.563-565, 2007 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 27 Issue: 6
  • Publication Date: 2007
  • Doi Number: 10.1002/pd.1723
  • Journal Name: PRENATAL DIAGNOSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.563-565
  • Keywords: Bartsocas-Papas syndrome, pterigium, prenatal diagnosis, MULTIPLE PTERYGIUM SYNDROME, POPLITEAL PTERYGIUM, AFFECTED SIBS, VARIANT, FAMILY
  • Kocaeli University Affiliated: Yes

Abstract

Objectives Bartsocas-Papas syndrome is a severe, autosomal recessive syndrome. The major findings are severe popliteal webbing, ankyloblepharon, syndactyly, orofacial clefts, filiform bands, hypoplastic nose and ectodermal anomalies. We report a Turkish family with three affected pregnancies and a fetus prenatally diagnosed and terminated in pregnancy.