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Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.
Zeydan B, Benbir G, Uluduz D, Ince B, Goksan B, Islak C. Zeydan B, et al. Am J Med Genet A. 2014 May;164A(5):1284-8. doi: 10.1002/ajmg.a.36440. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664815
A 37-year-old male, previously diagnosed with GAPO syndrome, was admitted to our hospital complaining of recurrent episodes of transient weakness and numbness in his left arm for 3 months, and severe headache with progressive dysphagia for 15 days. ...To the best of …
A 37-year-old male, previously diagnosed with GAPO syndrome, was admitted to our hospital complaining of recurrent episodes of …
GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.
Bacon W, Hall RK, Roset JP, Boukari A, Tenenbaum H, Walter B. Bacon W, et al. J Craniofac Genet Dev Biol. 1999 Oct-Dec;19(4):189-200. J Craniofac Genet Dev Biol. 1999. PMID: 10731088 Review.
The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. ...
The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. ...
GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.
Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC. Goloni-Bertollo EM, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1523-9. doi: 10.1002/ajmg.a.32157. Am J Med Genet A. 2008. PMID: 18470892 Review.
The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medica …
The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retard …
Ophthalmic findings in GAPO syndrome.
Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS. Ilker SS, et al. Jpn J Ophthalmol. 1999 Jan-Feb;43(1):48-52. doi: 10.1016/s0021-5155(98)00058-6. Jpn J Ophthalmol. 1999. PMID: 10197743
BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). ...White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: Optic atrophy is not a constant fin …
BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic …
GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.
Bozkurt B, Yildirim MS, Okka M, Bitirgen G. Bozkurt B, et al. Am J Med Genet A. 2013 Apr;161A(4):829-34. doi: 10.1002/ajmg.a.35734. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23494824
This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O) …
This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal reces …
Ophthalmic aspects of GAPO syndrome: case report and review.
Rim PH, Marques-de-Faria AP. Rim PH, et al. Ophthalmic Genet. 2005 Sep;26(3):143-7. doi: 10.1080/13816810500229058. Ophthalmic Genet. 2005. PMID: 16272061
This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). ...
This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth ret …
GAPO syndrome associated with vestibular dysfunction and hearing loss.
Rapsomaniki M, Chiarella G, Mascaro I, Ceravolo F, Cassandro E, Strisciuglio P, Concolino D. Rapsomaniki M, et al. Am J Med Genet A. 2013 Aug;161A(8):2102-4. doi: 10.1002/ajmg.a.35992. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794220 No abstract available.
GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.
Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS. Goyal N, et al. BMJ Case Rep. 2014 Jan 28;2014:bcr2013201727. doi: 10.1136/bcr-2013-201727. BMJ Case Rep. 2014. PMID: 24473423 Free PMC article.
GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). ...Overall, craniosynostosis has an incidence of about 1 in 2500 live-births. We present a patient with GAPO syndrome in association with craniosy …
GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). ...Overall, craniosy …
GAPO syndrome associated with pyoderma vegetans: an unreported co-existence.
Karadag AS, Calka O, Bilgili SG, Karadag R, Bulut G. Karadag AS, et al. Genet Couns. 2013;24(2):133-9. Genet Couns. 2013. PMID: 24032282
GAPO syndrome is a rare autosomal recessive disease and an acronym composed of growth retardation, alopecia, pseudoanodontia, optic atrophy. ...And the diagnosis of pyoderma vegetans was established based on the correlate of both clinical and histopathologic finding …
GAPO syndrome is a rare autosomal recessive disease and an acronym composed of growth retardation, alopecia, pseudoanodontia, …
13 results