Garip bir yüz yapısı vardır; dudaklar kalın, altçene küçüktür. Diş sürmelerinde aksamalar ve dişlerin kapanışında sorunlar (maloklüzyon) vardır.[1][5] Göbek çukurunda fıtık (umblikal herni) ile meme ve meme uçları hipoplazisi izlenir.[2][3][5]
Tıp ile ilgili bu madde taslak seviyesindedir. Madde içeriğini genişleterek Vikipedi'ye katkı sağlayabilirsiniz.
^abcdDeLuke DM, Haug RH. Syndromes of the Head and Neck. Elsevier, Philadelphia, 2014
^abBacon W, Hall RK, Roset JP, et al. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. Journal of Craniofacial Genetics & Developmental Biology, 19(4):189-200, 1999
^abNanda A, Al-Ateeqi WA, Al-Khawari MA, et al. GAPO syndrome: a report of two siblings and a review of literature. Pediatric Dermatology, 27(2):156-161, 2010
^Bayram Y, Pehlivan D, Karaca E, et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. American Journal of Medical Genetics, 164A(9):2328-2334, 2014
^abcdeHennekam LR, Krantz ID, Allansonb IJ. Gorlin's Syndromes of the Head and Neck. Oxford University Press, Oxford, 2010
^Goloni-Bertollo EM, Ruiz MT, Goloni CB, et al. GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. American Journal of Medical Genetics, 146A(12):1523-1529, 2008
^Rim PH, Marques-de-Faria AP. Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genetics, 26(3):143-147, 2005