Literature DB >> 18691219

Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome.

Andrew F Pilon1.   

Abstract

Anomalies of ocular motility associated with Duane's retraction syndrome (DRS) have often been perceived as isolated phenomena arising as a result of congenital ocular miswiring between the lateral and medial recti muscles. Interestingly, the reporting of concomitant ocular and systemic anomalies arising in the setting of DRS discounts this narrow perception and highlights the importance of a thorough investigation for non-ocular comorbidities. A 37-year-old Caucasian male presented for a routine ocular examination with complaints of gradual reduction in uncorrected near vision. Our testing confirmed the characteristic deficit of abduction, palpebral fissure narrowing and globe retraction consistent with a type 1 Duane's defect of the right eye. A midline cleft lip and palate were also noted in the absence of signs of nuchal rigidity/reduced range of motion in the cervical spine, spinal misalignment, deafness, optic nerve anomalies, hypertelorism or altered mental state. Awareness of key comorbidities and the importance of thorough clinical evaluation with appropriate supplemental testing and consultation with a paediatric ophthalmologist are warranted in non-isolated presentations of DRS.

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Year:  2008        PMID: 18691219     DOI: 10.1111/j.1444-0938.2008.00311.x

Source DB:  PubMed          Journal:  Clin Exp Optom        ISSN: 0816-4622            Impact factor:   2.742


  2 in total

1.  Whole exome association of rare deletions in multiplex oral cleft families.

Authors:  Jack Fu; Terri H Beaty; Alan F Scott; Jacqueline Hetmanski; Margaret M Parker; Joan E Bailey Wilson; Mary L Marazita; Elisabeth Mangold; Hasan Albacha-Hejazi; Jeffrey C Murray; Alexandre Bureau; Jacob Carey; Stephen Cristiano; Ingo Ruczinski; Robert B Scharpf
Journal:  Genet Epidemiol       Date:  2016-12-01       Impact factor: 2.135

2.  Multiple Ocular and Systemic Disorders in Association with Bilateral Duane's Retraction Syndrome.

Authors:  Mohammad Ali Zare; Mohammad Reza Akbari; Mohammad Yaser Kiarudi; Hadi Zare Mehrjardi
Journal:  Middle East Afr J Ophthalmol       Date:  2016 Jul-Sep
  2 in total

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