Výsledky vyhledávání - "MOMO syndrome"

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Akademický článek

Ovarian torsion secondary to serous cystadenoma in a patient with MOMO syndrome

Autor: Jay Patel, Kriti Tiwari, Anthony Tsai

Publikováno v: Journal of Pediatric Surgery Case Reports, Vol 72, Iss , Pp 101974- (2021)

MOMO syndrome is a very rare disorder that consists of macrosomia, obesity, macrocephaly, and ocular abnormalities. Very little is known about the implications of this syndrome as only 10 cases have been previously reported in the literature. Previou

Externí odkaz: https://doaj.org/article/d6c28f39ae464ab8bb9acb9994a4c5a0

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Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review

Autor: Diego Toledo, Marcelo Arancibia, Matías García, Elisa Sepúlveda, Cristóbal Passalacqua, Matías Valencia

Publikováno v: Medwave, Vol 19, Iss 04, Pp e7621-e7621 (2019)

MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f07afb4b31426bca77aad1f5f1283f2
https://doi.org/10.5867/medwave.2019.04.7621

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MOMO syndrome: a possible third case

Autor: Rosi A, Berardi R, Rosa Mostardini, T. Hadjistilianou, Raffaella Zannolli, Morgese G

Publikováno v: Clinical Dysmorphology. 9:281-284

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168d49a6677415e61d8c9259efc66b3b
https://doi.org/10.1097/00019605-200009040-00010

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Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome

Autor: M. von der Hagen, Sigrid Tinschert, Angelika Riess, Karl Hackmann, N. Di Donato, Andreas Rump, Evelin Schröck, Angela Huebner, Gabriele Hahn

Publikováno v: American journal of medical genetics. Part A. (11)

MOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of unknown cause. We describe two further patients with MOMO syndrome. Reported data of patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6552358211dcc284d6e19b5e70e9797b
https://pubmed.ncbi.nlm.nih.gov/22821547

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A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

Autor: Marie-Ange Delrue, Sylvain Briault, Orianne Montaubin, Laurence Taine, David Cappellen, Caroline Rooryck, Hussein Daoud, Françoise Bonnet, Benoit Arveiler, Azza Abd El Moneim, Didier Lacombe, Cong Toai Tran, Phi Yen Vu, Jérôme Toutain, Robert Saura, Christophe Philippe, Pascal Barat, Zong Qi Dai

Publikováno v: American Journal of Medical Genetics Part A 11 (158A), 2849-2856. (2012)
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (11), pp.2849-2856. ⟨10.1002/ajmg.a.35694⟩

International audience; Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1a0067343f399f3fdc6bd77c589f1ce
http://prodinra.inra.fr/record/172490

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MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Autor: Ram Kumar Marwaha, Inusha Panigrahi, Sheetal Sharda

Publikováno v: Case Reports in Genetics, Vol 2011 (2011)
Case Reports in Genetics

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea9b1ed25db246f07d5aaefe62bc608
https://doaj.org/article/f16064d259e3487681b18741b0bde12c

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Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized overgrowth syndrome

Autor: Márcia Listik, Nuvarte Setian, Danilo Moretti-Ferreira, Anita Wajntal, Célia Priszkulnik Koiffmann

Publikováno v: American Journal of Medical Genetics. 46:555-558

We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retard

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621eaacf87f7fa0aa27cf463cc2a68bd
https://doi.org/10.1002/ajmg.1320460519

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A new case of MOMO syndrome

Autor: Rachel D. Sugalski, Robert Wallerstein

Publikováno v: Clinical dysmorphology. 19(1)

MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5941fe8bedffde097911853e607af826
https://pubmed.ncbi.nlm.nih.gov/19996736

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