[Poland-Möbius syndrome associated with lacrimal punctal and canalicular agenesis].
We report the case of a 21-year-old patient who presented with epiphora in the left eye and a bilateral ocular motility problem. The clinical examination revealed bilateral moderate abduction limitation (impairment of the VIth cranial nerve), facial diplegia with amimic face (impairment of the VIIth cranial nerve), punctal agenesis of the left eye, absence of the left pectoralis major muscle, left breast aplasia, and hypoplasia of the left upper limb and hand. Neither the lacrimal puncta nor the canaliculi could be found during surgical exploration of left lacrimal system using operating microscope. Based on these findings, the patient was diagnosed with Poland-Möbius syndrome associated with punctal and canalicular agenesis. Poland-Möbius syndrome is a rare entity characterized by the association of two different syndromes: Poland syndrome and Möbius syndrome. Several abnormalities in association with this syndrome have been published. However, punctal and canalicular agenesis is not among these reported abnormalities.
Aydin
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Service d'ophtalmologie, Hôpital d'éducation de Haydarpasa, Académie militaire de médecine de Gulhane, Uskudar, Istanbul, Turquie. aliaydin67@hotmail.com
Ayata
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A
Sabahyildizi
M
M
Ersanli
D
D
D000328:Adult; D001132:Arm / Q000002:abnormalities; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D007766:Lacrimal Apparatus Diseases / Q000235:genetics; D008297:Male; D020331:Mobius Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000235:genetics; D011045:Poland Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D035583:Rare Diseases; D014421:Turkey / Q000453:epidemiology