Michael A Kipp | PubMed Health

PubMed2003

Childhood glaucoma.

The childhood glaucomas represent of variety of glaucoma subtypes that can cause serious and permanent visual damage. Early detection and treatment of infantile glaucoma is essential to preserve vision. The clinical signs and symptoms of infantile glaucoma are recognizable by nonophthalmologists but may be confused with other common clinical entities. Surgical and occasionally medical interventions can control raised intraocular pressure and thus prevent permanent glaucoma damage to the eye. Amblyopia is a common reason for permanent visual loss in this disease and needs to be treated aggressively as well.

Child↗

PubMed2002

A case of Moebius syndrome in association with Klinefelter syndrome.

PURPOSE: To describe an infant affected by Klinefelter syndrome, who also demonstrated clinical signs of Moebius syndrome. METHODS: A clinical case report. RESULTS: A male infant was born full-term to a healthy couple after an unremarkable pregnancy. Several dysmorphic features and generalized hypotonia were noted at birth. Chromosome study revealed a 47, XXY chromosome pattern, which is consistent with Klinefelter syndrome. The patient also demonstrated clinical findings of Moebius syndrome: bilateral horizontal gaze palsy, bilateral cranial nerve seven palsy, pointed tongue, pectoral muscle hypoplasia, and clubfeet. CONCLUSION: We report the first clinical case of a patient with Klinefelter syndrome who was also affected by Moebius syndrome. Although clinically intriguing, coexistence of the two syndromes most likely represents a chance occurrence.

Humans↗