ASOPRS 2014 Fall Syllabus - page 167

ASOPRSFall Scientific SymposiumSyllabus
ANewly IdentifiedSyndromeofMultipleFacial Clefts
RonGutmark,W JordanPiluek, Timothy J.McCulley. Ophthalmology, TheWilmer Eye Institute, JohnsHopkinsUniversitySchool of
Medicine, Baltimore,MD, UnitedStates
To describe the occurrence of multiple facial clefts involving all four eyelids, bilateral brows and the nose in a series
of Arabian patients.
In this observational case series, five patients from four familieswere identified during consultationwith theOculoplastics
Division at King Khaled Eye Specialists Hospital and the KingAbdulaziz University Hospital, in Riyadh, Saudi Arabia. In each case,
photographs and head imagingwere obtained, and chartswere reviewed. Each patient was also interviewed for a history of
consanguinity and similar findings in other familymembers.
5 patientswere identified, 3males and 2 females,with ages ranging from3months to 22 years. Four of these patients had
bilateral upper and lower eyelid colobomas, and all five patients had incomplete brow development and central fusional defects of the
nose.These patients had normal head imaging and no known neurologic abnormalities.There is an admitted history of consanguinity
in the families, suggesting a heritable syndrome. One of the patients has a deceased siblingwith a similar facial appearance, and two
of the patients presented here are siblings.
Four separate familieswere found in Saudi Arabiawith at least onemember affected bywhat appears to be the
same congenital syndrome consisting of bilateral upper and lower eyelid colobomas and clefts of the nose and brows. Such a
constellation of findings has not previously been described and it is proposed that an autosomal recessive inheritance pattern is
themost likely etiology.
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—Thursday,October 16, 2014
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