AARSKOG SYNDROME-ASSOCIATED WITH HYPERMETROPIA AND TOE ANOMALY

Citation
H. Caksen et al., AARSKOG SYNDROME-ASSOCIATED WITH HYPERMETROPIA AND TOE ANOMALY, South African medical journal, 87(12), 1997, pp. 1699-1700
Citations number
10
Categorie Soggetti
Medicine, General & Internal
ISSN journal
02569574
Volume
87
Issue
12
Year of publication
1997
Pages
1699 - 1700
Database
ISI
SICI code
0256-9574(1997)87:12<1699:ASWHAT>2.0.ZU;2-S
Abstract
Aarskog syndrome is characterised by a disproportionately short statur e and facial, skeletal and urogenital anomalies ('shawl' scrotum and c ryptorchidism). Ophthalmic findings include a slight downward slant to the palpebral fissures, hypertelorism, blepharoptosis, strabismus, op hthalmoplegia, hypermetropic astigmatism and a large cornea, Findings on the extremities include joint hyperextensibility, short and broad h ands, interdigital webbing, a short fifth finger, clinodactyly and bro ad feet with bulbous toes. We report on a 7 1/2-year-old boy with typi cal findings of Aarskog syndrome, hypermetropia and bilateral proximal implantation of the fifth toes. These associated abnormalities have h itherto never been described, to our knowledge.