title: Aarskog syndrome associated with hypermetropia and toe anomaly.
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.
authors.affiliation: Departments of Pediatrics and Ophthalmology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Caksen
authors.forename: S
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: A
authors.initials: A
authors.lastname: Ciftçi
authors.forename: N
authors.initials: N
authors.lastname: Cağil
authors.forename: V
authors.initials: V
authors.lastname: Gikrikçi
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D019066:Facies; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D006956:Hyperopia; D007593:Joint Instability; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*