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, cilt.27, sa.6, ss.563-565, 2007 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 6
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1002/pd.1723
  • Dergi Adı: PRENATAL DIAGNOSIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.563-565
  • Anahtar Kelimeler: Bartsocas-Papas syndrome, pterigium, prenatal diagnosis, MULTIPLE PTERYGIUM SYNDROME, POPLITEAL PTERYGIUM, AFFECTED SIBS, VARIANT, FAMILY
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.