Aarskog syndrome associated with hypermetropia and toe anomaly

Caksen H., KURTOĞLU S., Çiftci A., Çağıl N., Gikrikci V.

SOUTH AFRICAN MEDICAL JOURNAL, cilt.87, sa.12, ss.1699-1700, 1997 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 87 Sayı: 12
  • Basım Tarihi: 1997
  • Dergi Adı: SOUTH AFRICAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1699-1700
  • Erciyes Üniversitesi Adresli: Evet

Özet

Aarskog syndrome is characterised by a disproportionately short stature and facial, skeletal and urogenital anomalies ('shawl' scrotum and cryptorchidism). Ophthalmic findings include a slight downward slant to the palpebral fissures, hypertelorism, blepharoptosis, strabismus, ophthalmoplegia, hypermetropic astigmatism and a large cornea, Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes. We report on a 7 1/2-year-old boy with typical findings of Aarskog syndrome, hypermetropia and bilateral proximal implantation of the fifth toes. These associated abnormalities have hitherto never been described, to our knowledge.