Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Broad nasal bridge"'
Publikováno v:
Neurol Clin Pract
Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0165e5edf12bce82eadd502c80a07785
https://europepmc.org/articles/PMC8382431/
https://europepmc.org/articles/PMC8382431/
Publikováno v:
Open Medicine
Open Medicine, Vol 13, Iss 1, Pp 433-435 (2018)
Open Medicine, Vol 13, Iss 1, Pp 433-435 (2018)
Study advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpeb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a915ec7bbc8e7620b8f35dfc614d5cc
https://doi.org/10.1515/med-2018-0064
https://doi.org/10.1515/med-2018-0064
Publikováno v:
Case Reports in Dermatology, Vol 7, Iss 2, Pp 156-160 (2015)
Case Reports in Dermatology
Case Reports in Dermatology
Keloid scars result from an abnormal healing response to cutaneous injury or inflammation that extends beyond the borders of the original wound. Spontaneous keloid scars forming in the absence of any previous trauma or surgical procedure are rare. Ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a306e2dc7e22b65229b164b3b084b787
http://www.karger.com/Article/FullText/437249
http://www.karger.com/Article/FullText/437249
Autor:
Anna Paradowska-Stolarz
Publikováno v:
Advances in Clinical and Experimental Medicine. 23:485-489
Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd56bfe3484e6077f3bc20b5b5e244fb
https://doi.org/10.17219/acem/24111
https://doi.org/10.17219/acem/24111
Autor:
Aslı Patır Münevveroğlu, B. B. Akgöl
Publikováno v:
Case Reports in Dentistry
Case Reports in Dentistry, Vol 2012 (2012)
Case Reports in Dentistry, Vol 2012 (2012)
Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol Universit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e480f7c6864f2a05f51af8015c96d3a
https://doi.org/10.1155/2012/483867
https://doi.org/10.1155/2012/483867
Autor:
J. R. Goodman, C. U. Robertson
Publikováno v:
International Journal of Paediatric Dentistry. 3:151-156
Summary. Osteopathia striata is an unusual skeletal condition that can affect the bones of the skull quite markedly and result in dental problems that have rarely been discussed in the literature. The characteristic features exhibited by the patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fa8bae2534ba3225b9eb17af8d2606
https://doi.org/10.1111/j.1365-263x.1993.tb00072.x
https://doi.org/10.1111/j.1365-263x.1993.tb00072.x
Autor:
Johana M. Mantilla-Capacho, Luis E. Figuera, Martha Ortiz-Aranda, Vasquez Ai, Manuel Díaz-Rodríguez, Lisette Arnaud-Lopez, Luis E. Becerra-Solano, Jose A. Nastasi-Catanese
Publikováno v:
Clinical Dysmorphology. 17:27-30
A 25-year-old woman with a mosaic 45,X/47XX,+14 karyotype is reported. She presented with short stature, short downward slanting palpebral fissures, broad nasal bridge, mouth with downturned corners, short and wide neck, swirly hyperpigmentation of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b6c3e562a8cbcc2fb5905f9ff91de25
https://doi.org/10.1097/mcd.0b013e3282ef947d
https://doi.org/10.1097/mcd.0b013e3282ef947d
Autor:
Adriana Lo Castro, Anna Maria Nardone, Ambrogio Di Paolo, C. Lalli, Paolo Curatolo, Cinzia Galasso
Publikováno v:
Brain and Development. 29:312-316
Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a664dbc05f819ba95f7ef26c3500c715
https://doi.org/10.1016/j.braindev.2006.09.014
https://doi.org/10.1016/j.braindev.2006.09.014
Autor:
Pascale de Lonlay, Christine Francannet, Arnold Munnich, Jeanne Amiel, Nanda M. Verhoeven, Daniel Rabier, Stanislas Lyonnet, Cornelis Jakobs, Henri Bruel, Alain Picard, Martine Le Merrer
Publikováno v:
American Journal of Medical Genetics. 86:124-129
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32e6f5acf4a97b7f270a8ee97ba5e16f
https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<124::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<124::aid-ajmg7>3.0.co
Autor:
George E. Tiller, Ralph S. Lachman, Colleen Ditro, Wagner A.R. Baratela, Ericka Okenfuss, Charles I. Scott, William G. Mackenzie, Deborah Krakow, Angela L. Duker, Michael B. Bober, Deborah L. Stabley, Katia Sol-Church
Publikováno v:
American journal of medical genetics. Part A. (8)
We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c796d7447d7be960542b68e0f8cd7d
https://pubmed.ncbi.nlm.nih.gov/22711505
https://pubmed.ncbi.nlm.nih.gov/22711505