title: Smith-Magenis syndrome in Puerto Rico: a case report.
abstract: Smith-Magenis syndrome (SMS) is characterized by deletions in the short arm of chromosome 17. Systemic findings in patients with the syndrome include: dysmorphic facies and skeletal deformities. Ophthalmic findings in patients with the SMS include: strabismus, refractive errors, microcornea, iris anomalies, microphthalmos, and coloboma. A 14-year-old boy with cytogenetic studies confirming the SMS underwent a comprehensive ophthalmologic examination. The patient has a history of strabismus surgery. Clinical findings in this patient include: developmental delay, facial dysmorphism, enamel hypoplasia, short broad hands, clinodactyly, and scoliosis. Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis. To our knowledge this is the first reported case of SMS in the Caribbean basin and the first case that report ectopia lentis in SMS. There is a possibility that lens subluxation in our patient is due to self inflicted trauma.
authors: UPR School of Medicine, University of Puerto Rico, Rio Piedras, Puerto Rico.
authors: Javier
authors: J
authors: Jardón
authors: Natalio J
authors: NJ
authors: Izquierdo
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000235:genetics; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000648:ultrastructure; D004479:Ectopia Lentis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011647:Puerto Rico / Q000453:epidemiology; D012652:Self Mutilation / Q000235:genetics