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  • Title: Aarskog syndrome associated with hypermetropia and toe anomaly.
    Author: Caksen H, Kurtoğlu S, Ciftçi A, Cağil N, Gikrikçi V.
    Journal: S Afr Med J; 1997 Dec; 87(12):1699-700. PubMed ID: 9497838.
    Abstract:
    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.
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