Zobrazeno 1 - 10
of 13
pro vyhledávání: '"smooth philtrum"'
Autor:
Fourie, Leigh-Anne
Fetal Alcohol Syndrome (FAS) is a preventable cause of mental retardation and is the severest category within Fetal Alcohol Spectrum Disorder (FASD). As gestational alcohol exposure affects fetal cognitive functioning, children with FAS present with
Externí odkaz:
http://hdl.handle.net/10500/2158
Autor:
Miguel Del Campo, Kenneth L. Jones
Publikováno v:
European Journal of Medical Genetics. 60:55-64
The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dbec33c4f21823b26af2ad51bc20e86
https://doi.org/10.1016/j.ejmg.2016.10.004
https://doi.org/10.1016/j.ejmg.2016.10.004
Autor:
Małgorzata Klecka, Janusz K. Rybakowski, Andrzej Siwiec, Małgorzata Janas-Kozik, Ireneusz Jelonek
Publikováno v:
Psychiatria polska. 51(2)
Cel pracyCelem pracy jest ilościowa ocena cech dysmorfii twarzy w populacji polskiej z wykorzystaniem polskiej wersji kwestionariusza diagnostycznego FASD (Fetal Alcohol Spectrum Disorders), tzw. Kwestionariusza Waszyngtońskiego.MetodaZbadano 2 gru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d8ad0ff971a30d79ae9750e48d3962
https://pubmed.ncbi.nlm.nih.gov/28581541
https://pubmed.ncbi.nlm.nih.gov/28581541
Autor:
Daryl Waggott, Annika M. Dries, Jonathan A. Bernstein, Magdalena Walkiewicz, Euan A. Ashley, Matthew T. Wheeler, Diane B. Zastrow, Liliana Fernandez, Paul G. Fisher, Ellyn Farrelly, Jennefer N. Kohler, Patricia A. Zornio, Christine M. Eng, Melanie A. Manning
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9670e42ac306ad1719840f944fa3e3ab
https://www.ncbi.nlm.nih.gov/pubmed/28050602
https://www.ncbi.nlm.nih.gov/pubmed/28050602
Autor:
Caryl Wilson, Andy R Ness, Stephen Richmond, Rebecca Playle, Alexei I. Zhurov, Arshed M. Toma
Publikováno v:
American Journal of Medical Genetics Part A. 161:4-12
The aim of this study is to describe and categorize the various lip vermilion morphological traits, prevalence, and associations present in a 15-year-old population The instrument we developed was checked for the reliability of assessment. The study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bb2124724bb4748ec6d6ad8a4acb7b4
https://doi.org/10.1002/ajmg.a.35515
https://doi.org/10.1002/ajmg.a.35515
Autor:
Jessica Hamzelou
Publikováno v:
New Scientist. 234:11
Drinking low levels of alcohol when pregnant seems to subtly affect how a baby's face develops, including the shape of the eyes, nose and lips. Heavy drinking during pregnancy can cause fetal alcohol syndrome, characterized by facial features such as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43951c5f1fa9c3bf937330e61a6576b0
https://doi.org/10.1016/s0262-4079(17)31099-0
https://doi.org/10.1016/s0262-4079(17)31099-0
Publikováno v:
Clinical Dysmorphology. 12:183-185
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40846fa7d5c2f1d3360495562da2b00c
https://doi.org/10.1097/01.mcd.0000065051.36236.e9
https://doi.org/10.1097/01.mcd.0000065051.36236.e9
Autor:
Luther K. Robinson, Edward P. Riley, Anna Strahova, Galina Marintcheva, Svetlana Sergeevskaya, Christina D. Chambers, Kenneth L. Jones, Svetlana Budantseva, Sarah N. Mattson, Vladimir Storojev, Ludmila N. Bakhireva
Publikováno v:
Pediatrics. 118(6)
OBJECTIVES. Accurate and early diagnosis of the fetal alcohol syndrome is important for secondary prevention, intervention, and treatment, yet many pediatricians lack expertise in recognition of the characteristic features of this disorder. After a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3314aee78af464469abea51f5ad5d747
https://pubmed.ncbi.nlm.nih.gov/17088402
https://pubmed.ncbi.nlm.nih.gov/17088402
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Publikováno v:
American journal of medical genetics. 30(3)
We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a194ba5ffae924467c5b11a8a9d7f7e
https://pubmed.ncbi.nlm.nih.gov/3055984
https://pubmed.ncbi.nlm.nih.gov/3055984