TITLE

Recognizing a common genetic syndrome: 22q11.2 deletion syndrome

AUTHOR(S)
Kapadia, Ronak K.; Bassett, Anne S.
PUB. DATE
February 2008
SOURCE
CMAJ: Canadian Medical Association Journal;2/12/2008, Vol. 178 Issue 4, p391
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article presents a case study of a 24-year-old woman with multiple medical, surgical and psychiatric issues. She had a history of asymptomatic mild congenital pulmonary stenosis that required antibiotic prophylaxis. She was found to have hypertelorism, strabismus, bulbous nasal tip and small ears. She was diagnosed of having 22q11.2 deletion syndrome with genetic counselling and long-term management of associated medical, surgical and psychiatric conditions.
ACCESSION #
28799180

 

Related Articles

  • Evaluation of Vertical Deviations Secondary to Anatomical Abnormalities. Rovick, Lisa P. // American Orthoptic Journal;2011, Vol. 61, p34 

    Vertical strabismus secondary to anatomical abnormalities includes orbital anomalies leading to rotation of the extraocular muscle cone, converting the horizontal rectus muscles from adductors and abductors to elevators and depressors. Craniofacial syndromes also may include anomalous or absent...

  • Assessment of Amplitude and Control of the Distance Deviation in Intermittent Exotropia. Arnoldi, Kyle A.; Reynolds, James D. // Journal of Pediatric Ophthalmology & Strabismus;May/Jun2008, Vol. 45 Issue 3, p150 

    Purpose: A period of monocular occlusion (patch test) has been recommended to determine the magnitude of the distance exotropia to target with surgery. The hypothesis tested by this study was that patients with good control at distance are more likely to demonstrate tenacious distance fusion...

  • A rare constellation of congenital cranial anomalies. Mathew, A. J.; Yamuna, R. P.; Rajasekharan, C. // Journal of Postgraduate Medicine;Apr-Jun2010, Vol. 56 Issue 2, p150 

    The article presents a case study of a 20-year-old woman with multiple anomalies and presented with generalized seizures. Her mother noticed a swelling on the right medical aspect of the patient's nose when she was four years old and have enlarged as she grew older. The patient also presented a...

  • Factors Contributing to the Outcome of Sensory Testing in Patients with Anomalous Binocular Correspondence. Arnoldi, Kyle // American Orthoptic Journal;2011, Vol. 61, p128 

    Traditional teaching on anomalous retinal correspondence (ARC) identifies the dissociative quality of a sensory test as the primary factor influencing the outcome of correspondence testing. However, these tests differ also in function and format. This study compared one mildly dissociating test...

  • Long-Standing, Large-Angle Exotropia in Adults. Peters, Elyssa R.; Archer, Steven M. // American Orthoptic Journal;2007, Vol. 57, p104 

    Introduction and Purpose: This study examines the sensory and motor results in adult patients with large-angle exotropia treated with nonadjustable bilateral recess-reseat procedures. Methods: A consecutive series of adult patients undergoing four-muscle surgery for exotropia > 50~ with no...

  • exotropia.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p828 

    An encyclopedia entry for "exotropia" which refers to divergent strabismus is presented.

  • Risk Factors for Consecutive Exotropia. Nelson, Leonard B. // Journal of Pediatric Ophthalmology & Strabismus;Sep2013, Vol. 50 Issue 5, p267 

    The author presents information on the risk factors for consecutive exotropia.

  • Sensory Strabismus: When Does it Happen and Which Way Do They Turn? Havertape, Susan A.; Cruz, Oscar A. // American Orthoptic Journal;2001, Vol. 51, p36 

    Presents a study that reviewed cases of sensory strabismus. Nature of sensory strabismus; Causes of the eye disorder; Medical background of the patients; Results and discussion.

  • Strabismus Secondary to Blowout Fracture. Demer, Joseph L. // American Orthoptic Journal;2001, Vol. 51, p39 

    Presents information on the nature and management of strabismus associated with blowout fracture, a form of orbital fracture. Mechanisms of strabismus in orbital fracture; Evaluation of strabismus in orbital fracture; Management options.

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics