Cri du Chat Syndrome: Case Presentation and Review.
Background: Patients with Cri du Chat syndrome (CdCs) often present with hallmark signs of the condition including craniofacial malformations, varying degrees of mental retardation, and language/communication delays. They are often previously diagnosed and under the care of other medical professiona...
| Published in: | Journal of Behavioral Optometry Vol. 23; no. 4; pp. 94 - 99 |
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| Format: | case study pictorial tables/charts Journal Article |
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Optometric Extension Program
2012
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=82589276&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 82589276 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10458395 6MY5 jtl: Journal of Behavioral Optometry issn: 10458395 maglogo: N pubinfo: dt: 2012 vid: 23 iid: 4 pid: 46881 pub: Optometric Extension Program place: Lutherville Timonium, Maryland artinfo: ui: 82589276 82589276 104426226 82589276 ppf: 94 ppct: 5 formats: fmt: @attributes: type: P tig: atl: Cri du Chat Syndrome: Case Presentation and Review. aug: au: Sweeney, Sarah affil: Marion Eye Centers, 1200 West Deyoung Street, Marion, Illinois 62959 sug: subj: Cri-Du-Chat Syndrome Child Female Child: 6-12 years Female ab: Background: Patients with Cri du Chat syndrome (CdCs) often present with hallmark signs of the condition including craniofacial malformations, varying degrees of mental retardation, and language/communication delays. They are often previously diagnosed and under the care of other medical professionals. However, significant ocular, developmental, and visual-spatial concerns for which CdCs patients are pre-disposed must be identified and treated. The following case study presents a patient with CdCs, and further investigates the occurrence of the syndrome and methods of diagnosis, management, and prognosis of associated ocular sequelae. Case Report: A six-year-old female presented for an examination. Her parents wanted advice on incorporating vision therapy to help reduce the daughter's eye turn. She had been diagnosed with CdCs at birth and accommodative esotropia at the age of two. She was wearing moderate plus lenses for several hours a day while doing near work. Characteristic signs of CdCs were evident including micrognathia, high-pitched voice, severe developmental delays, and strabismus. The examination consisted of qualifying and quantifying the strabismus, visual acuity estimation, extraocular muscle testing, and patient observation using gross motor movements. Conclusion: While most CdCs patients will present with a history of diagnosis and management by other health care professionals, the responsibility of identifying ocular abnormalities and visual-spatial deficiencies remain an essential part of the examination. Signs of amblyopia (the leading cause of vision loss in patients with CdCs), strabismus, high refractive error, cataracts, lid/adnexal disease, optic nerve atrophy and/or dysplasia, and poor kinesthetic/spatial awareness may be subtle and challenging to obtain, but must not go overlooked when caring for patients within this population. pubtype: Academic Journal doctype: case study pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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