Neuhauser syndrome and Peters' anomaly

Yarar C., Yakut A., YILDIRIM N., Yildiz B., Basmak H.

CLINICAL DYSMORPHOLOGY, cilt.15, sa.4, ss.249-251, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 4
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1097/01.mcd.0000228421.59166.82
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.249-251
  • Anahtar Kelimeler: hypotonia, megalocornea, mental motor retardation, microcephaly, Neuhauser syndrome, Peters' anomaly, MENTAL-RETARDATION SYNDROME, MOTOR RETARDATION, MEGALOCORNEA, MMMM
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters' anomaly, microcephaly, undescended testicle, patent ductus arteriosus and atrial septal defects. Ophthalmologic examination demonstrated central opacity of the left cornea and lens and iris adhesions extending from the pupillary margin to the borders of the opacity. Keratoplasty operation was done for the right eye owing to central corneal opacity. Neuhauser syndrome should be considered in the differential diagnosis of the patients with megalocornea, hypotonia and mental and motor retardation who have dysmorphic findings. To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously.