منابع مشابه
Atypical Fryns syndrome: clinical, radiological and pathological findings.
Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and b...
متن کاملOcular Findings in Rett Syndrome
Rett syndrome is a rare neurodegenerative disease, characterized by a year of normal development, followed by rapid mental and physical deterioration. A review of the medical literature reveals only limited research on ocular abnormalities in this population. The purpose of this paper is to investigate visual findings in a cohort of patients with Rett syndrome. Seven females with Rett syndrome ...
متن کاملOcular findings in Jacobsen syndrome.
PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...
متن کاملOcular findings in sturge-weber syndrome.
PURPOSE We reviewed the rare ocular findings of Sturge-Weber syndrome (SWS) and the results of implantation of the Ahmed valve in cases associated with glaucoma. METHODS Seven patients (range 18 to 52 years) diagnosed as SWS were reviewed as clinical findings over two years. An anterior chamber maintainer was placed in patients with glaucoma to maintain stable intraocular pressure and minimiz...
متن کاملOcular findings in linear sebaceous naevus syndrome.
The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2000
ISSN: 1395-3907,1600-0420
DOI: 10.1034/j.1600-0420.2000.078006710.x