Rhizomelia with anal atresia and anophthalmia: a new syndrome?

Oezlem G., Elcin B., Ayfer U., Oguz A., Erdener O., Derya E.

CLINICAL DYSMORPHOLOGY, cilt.17, sa.1, ss.53-56, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1097/mcd.0b013e3282ef9592
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.53-56
  • Anahtar Kelimeler: anophthalmos, imperforate anus, rhizomeli, congenital abnormality
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and corpus callosum agenesis. Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome.