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: H Caksen, S Kurtoğlu, A Ciftçi, N Cağil, V Gikrikçi
• Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde (S Afr Med J) Vol. 87 Issue 12 Pg. 1699-700 (Dec 1997) ISSN: 0256-9574 [Print] South Africa
• PMID: 9497838 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple
• Child
• Facies
• Genitalia, Male (abnormalities)
• Humans
• Hyperopia
• Joint Instability
• Male
• Syndrome
• Toes (abnormalities)