Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Mohr syndrome"'
Publikováno v:
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Orofacial digital syndrome is a rare genetic disorder with oral cavity, facial and digits anomalies. Orofacial digital syndrome type II, also called the “Mohr syndrome” is a very rare subtype that has been reported scarcely in
Externí odkaz:
https://doaj.org/article/7784a0d27b884b038dec5fd1d5e8cdd1
Autor:
Hideyuki Takagi, Pedro Thiago, Zeuxis de Siqueira, Bruno, Peixoto Mendonça, Guilherme, Navarro Machado, Adriana, Santana Prata, André
Publikováno v:
Health Residencies Journal-HRJ; v. 2 n. 11 (2021): Cuidados Paliativos: desafios e oportunidades; 17-25
Health Residencies Journal (HRJ)
Escola Superior de Ciências da Saúde (ESCS)
instacron:ESCS
Health Residencies Journal (HRJ)
Escola Superior de Ciências da Saúde (ESCS)
instacron:ESCS
Oro-facio-digital syndrome is a rare disorder of embryonic development. Patients may have deformities in the mouth, face, hands and feet. At least 11 different clinical forms of the syndrome have been described, including oro-facial-digital syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::a0f9d16b9a761b03c07f6bfe438483aa
https://escsresidencias.emnuvens.com.br/hrj/article/view/139
https://escsresidencias.emnuvens.com.br/hrj/article/view/139
Publikováno v:
BMC Musculoskeletal Disorders
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-5 (2020)
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-5 (2020)
Background Orofacial digital syndrome is a rare genetic disorder with oral cavity, facial and digits anomalies. Orofacial digital syndrome type II, also called the “Mohr syndrome” is a very rare subtype that has been reported scarcely in Asia esp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d74ced866b0464d992ddb1a1181233d
https://doi.org/10.1186/s12891-020-03825-x
https://doi.org/10.1186/s12891-020-03825-x
Akademický článek
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Publikováno v:
Journal of Clinical Medicine Research
We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0d9580db67a5ef711f57b46d8914d94
https://doi.org/10.14740/jocmr2341w
https://doi.org/10.14740/jocmr2341w
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
International Journal of Obstetric Anesthesia. 23:182-185
Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fbe866e935655cb3f62b1ddb7afeb9
https://doi.org/10.1016/j.ijoa.2013.12.004
https://doi.org/10.1016/j.ijoa.2013.12.004
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 14, No 3 (2013); 311–315
We report a 2months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e3161a9f2fcd7791a089e2e09cc5f36
https://doi.org/10.1016/j.ejmhg.2013.03.005
https://doi.org/10.1016/j.ejmhg.2013.03.005
Publikováno v:
Clinical Dysmorphology. 22:109-114
Mohr syndrome [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc9beadbde28ce077928dae74edf429
https://doi.org/10.1097/mcd.0b013e32835fe161
https://doi.org/10.1097/mcd.0b013e32835fe161
Publikováno v:
Scopus-Elsevier
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a letha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a420aeb66a9b110c8fce4a48108e531
https://doi.org/10.1111/j.1399-0004.1987.tb02817.x
https://doi.org/10.1111/j.1399-0004.1987.tb02817.x