Cases reported "Coloboma"

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1/4. Morning Glory syndrome. MR imaging.

    We present two cases of the Morning Glory Syndrome (MGS), with the most detailed MR images to date of this rare congenital optic nerve dysplasia. Though the embryology of this syndrome remains controversial, we feel the MR appearance can be diagnostic of the non-familial syndrome and be reliably distinguished from the similar appearing optic disc coloboma, which may be genetically inherited. MR imaging also allows the most sensitive detection and characterization of any associated intracranial anomalies, thus enabling more accurate determination of prognosis for the patient and their family.
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2/4. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.

    PURPOSE: We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. methods: Chart review of Ocular genetics Program patients at The Hospital for Sick Children, Toronto, canada. RESULTS: Four del11qter cases are presented. hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found. CONCLUSIONS: We report typical findings and novel ocular presentations. Visual prognosis is generally good. retinal dysplasia and coloboma seem associated with del11q23. ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted.
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3/4. CHARGE association: clinical manifestations and developmental outcome.

    Mental retardation and growth failure are considered integral manifestations in the CHARGE association, reported to be present in as many as 90% of cases. Recent studies have reported a better than expected outcome in some patients; however, the conclusions of these studies have been confounded to some extent by their inclusion criteria. We report follow-up of 17 patients with CHARGE association in whom the diagnosis was based on clinical findings present in early infancy, before developmental patterns were established. Of the 7 survivors, all had motor delay, and 6 had feeding difficulties during infancy. Psychometric assessment at follow-up (age range 2 years, 10 months, to 15 years) showed that 2 were functioning in the normal range, 3 had specific language delay, one had moderate mental retardation, and one had severe mental retardation. Feeding problems persisted in only the 2 youngest patients. After initial failure to thrive, normal height was reached in 4 of 5 children older than age 3 years. The effects of visual and hearing deficits, their management, and the effects of physical illness are discussed with respect to developmental outcome. Our results suggest that some infants with CHARGE association who survive early infancy have a better prognosis for feeding difficulties, growth, and mental development than may be expected from early performance and better than that generally predicted from the current literature. The prompt management of sensory deficits is emphasized.
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4/4. charge syndrome: report of 47 cases and review.

    The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the charge syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in charge syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.
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