Aarskog syndrome associated with hypermetropia and toe anomaly


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

SOUTH AFRICAN MEDICAL JOURNAL, cilt.87, no.12, ss.1699-1700, 1997 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 87 Konu: 12
  • Basım Tarihi: 1997
  • Dergi Adı: SOUTH AFRICAN MEDICAL JOURNAL
  • Sayfa Sayıları: ss.1699-1700

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.