Zobrazeno 1 - 10
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pro vyhledávání: '"Long philtrum"'
Akademický článek
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Autor:
Christine Fauth, Shwetha Kuthiroly, Tania Attié-Bitach, Raoul C.M. Hennekam, Birgit Krabichler, Sheela Nampoothiri
Publikováno v:
American journal of medical genetics. Part A, 155A(10), 2465-2468. Wiley-Liss Inc.
We report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b3a9c2bb42be707244881719f185cb
https://pure.amc.nl/en/publications/macrostomia-thin-upper-vermilion-border-long-philtrum-broad-halluces-and-intellectual-disability-in-two-sibs(bcf79d0b-fd95-4ec3-a23b-f0e606a2652b).html
https://pure.amc.nl/en/publications/macrostomia-thin-upper-vermilion-border-long-philtrum-broad-halluces-and-intellectual-disability-in-two-sibs(bcf79d0b-fd95-4ec3-a23b-f0e606a2652b).html
Autor:
Gunasekaran, Pradeep Kumar1 (AUTHOR), Saini, Lokesh1 (AUTHOR) drlokeshsaini@gmail.com, Rajial, Tanuja1 (AUTHOR), Manjunathan, Sujatha1 (AUTHOR), Laxmi, Veena1 (AUTHOR), Gupta, Rahul1 (AUTHOR), Kumar, Ashna1 (AUTHOR), Parameswaran, Arun Sree1 (AUTHOR), Palayullakandi, Achanya2 (AUTHOR), Budania, Anil3 (AUTHOR), Singh, Kuldeep1 (AUTHOR)
Publikováno v:
Journal of Neurosciences in Rural Practice. Jul-Sep2024, Vol. 15 Issue 3, p425-6. 6p.
Autor:
El-Bassyouni, Hala T.1 (AUTHOR), Ashaat, Engy A.1 (AUTHOR) nogy80@hotmail.com, Hamed, Khaled1 (AUTHOR), Rashed, Maha2 (AUTHOR), Abd-Elnaby, Azza E.3 (AUTHOR), Shehab, Marwa3 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 2/12/2024, Vol. 25 Issue 1, p1-6. 6p.
Publikováno v:
The Cleft Palate Craniofacial Journal. 60:367-375
Femoral facial syndrome (FFS) is a rare condition which may present with hypoplasia or aplasia of the femora and unusual facies characterized by long philtrum, thin upper lip and micrognathia. We present the case of a ten-month old infant with FFS wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84dc3cccf94633a6e1a755d1e851845
https://doi.org/10.1177/10556656211059705
https://doi.org/10.1177/10556656211059705
Autor:
Bajracharya, Luna1 (AUTHOR), Lall, Meena2 (AUTHOR), Bijarnia-Mahay, Sunita2 (AUTHOR), Kumar, Praveen3 (AUTHOR), Mushtaq, Imran4 (AUTHOR), Saviour, Pushpa2 (AUTHOR), Paliwal, Preeti2 (AUTHOR), Joshi, Anju2 (AUTHOR), Agarwal, Shruti2 (AUTHOR), Suman, Praveen4 (AUTHOR)
Publikováno v:
Case Reports in Genetics. 10/16/2023, p1-9. 9p.
Publikováno v:
Indian Journal of Obstetrics and Gynecology Research. 5:297-300
Fryns et al described a syndrome in the year 1979.1 Fryns syndrome is characterized by diaphragmatic defects, facial dysmorphism including coarse face, hypertelorism, broad and flat nasal bridge, with thick nasal tip, long philtrum, tented upper lip,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2811323c4cb2bd9d2ec01b027265358
https://doi.org/10.18231/2394-2754.2018.0065
https://doi.org/10.18231/2394-2754.2018.0065
Autor:
Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
Publikováno v:
American Journal of Medical Genetics Part A. 179:150-158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4d
https://doi.org/10.1002/ajmg.a.61033
https://doi.org/10.1002/ajmg.a.61033
Autor:
Minerva Gómez-Flores, Jorge Ocampo-Candiani, Sonia Chavez-Alvarez, Norma Elizabeth Vázquez-Herrera, Cosimo Misciali, Alejandra Villarreal-Martinez, Maira Elizabeth Herz-Ruelas, Sandra Cecilia Garcia-Garcia, Antonella Tosti
Publikováno v:
Skin Appendage Disord
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79bb1e8bf076ce7c6702d8788131890
https://doi.org/10.1159/000506524
https://doi.org/10.1159/000506524