Zobrazeno 1 - 10
of 179
pro vyhledávání: '"Long philtrum"'
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
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:
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
Autor:
Grant Tran, Erica S Tsang, Farah R. Zahir, Chi Kin Wong, Heba Yasin, Leora Lee, Sylvie Langlois, William T. Gibson, Christine Tyson, Jan M. Friedman, Jenny Poon, Marco A. Marra, Robert Stowe
Publikováno v:
Journal of Human Genetics. 64:271-280
A decade ago, we described novel de novo submicroscopic deletions of chromosome 14q11.2 in three children with developmental delay, cognitive impairment, and similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4eac1ee4a374eea7a2ac47e5f3d462e
https://doi.org/10.1038/s10038-019-0561-0
https://doi.org/10.1038/s10038-019-0561-0
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:
Kathleen Shields, Peter Hammond, Nine V A M Knoers, Gijs van Haaften, Mieke M. van Haelst, Dorothy K. Grange, Helen I. Roessler
Publikováno v:
Roessler, H I, Shields, K, Grange, D K, Knoers, N V A M, van Haaften, G, Hammond, P & van Haelst, M M 2020, ' Three-dimensional facial morphology in Cantú syndrome ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1041-1052 . https://doi.org/10.1002/ajmg.a.61517
American Journal of Medical Genetics. Part A, 182(5), 1041-1052. Wiley
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics, Part A, 182(5), 1041-1052. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(5), 1041-1052. Wiley
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics, Part A, 182(5), 1041-1052. Wiley-Liss Inc.
Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively. It is characterized by congenital hypert
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeca83498463f1fe570367da76fc2485
https://research.vumc.nl/en/publications/78299abf-6099-45f5-b894-e0f3be8c9d36
https://research.vumc.nl/en/publications/78299abf-6099-45f5-b894-e0f3be8c9d36
Autor:
Rabah M. Shawky, Radwa Gamal
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 4, Pp 429-432 (2018)
Egyptian Journal of Medical Human Genetics; Vol 19, No 4 (2018); 429-432
Egyptian Journal of Medical Human Genetics; Vol 19, No 4 (2018); 429-432
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, lon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d00d375a86d62f103753b8d9d612a5d
http://www.sciencedirect.com/science/article/pii/S1110863018300065
http://www.sciencedirect.com/science/article/pii/S1110863018300065
Publikováno v:
Molecular Syndromology. 9:266-270
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (KIF11) gene have been associated with this condition.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18998b2807a1fd9a41f15347badc750
https://doi.org/10.1159/000491568
https://doi.org/10.1159/000491568
Publikováno v:
Revista Colombiana Salud Libre. 12:60-65
Smith-Lemli-Opitz (SLO) es un síndrome debido a la deficiencia de la 7- dehidrocolesterol reductasa (DHCR7). DHCR7 cataliza principalmente la reducción del 7-dehidrocolesterol (7DHC) en colesterol. En SLO, esto se traduce en la disminución del col
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebf46ede1e69187bd1c1cc87295cf944
https://doi.org/10.18041/1900-7841/rcslibre.2017v12n1.1419
https://doi.org/10.18041/1900-7841/rcslibre.2017v12n1.1419
Autor:
Elvan Bayramoğlu, Erdal Kurnaz, Şenay Savaş Erdeve, Melikşah Keskin, Nursel Muratoglu Sahin, Semra Çetinkaya, Zehra Aycan
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to shor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51091fe7d65d958155348a5e889e8685
https://doi.org/10.4274/jcrpe.3238
https://doi.org/10.4274/jcrpe.3238