Results 31 to 40 of about 436,684 (219)

Fetal Valproate Syndrome

Pediatrics and Neonatology, 2017
There have been several reports of congenital malformations in the offspring of mothers who took valproic acid (VPA) during pregnancy as a treatment for epilepsy.
Hatice Mutlu-Albayrak, Cahide Bulut, Hüseyin Çaksen   +2 more
doaj   +1 more source

Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1

Frontiers in Pediatrics, 2021
Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA.
Jaewon Kim, Dong-Woo Lee, Dae-Hyun Jang
doaj   +1 more source

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) [PDF]

, 2008
Background: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA ...
van Deuren, M., Slatter, M.A., Hagleitner, M. M., Weemaes, C.MR., Gimelli, G., Gennery, A.R., Reisli, I., T. Mattina, JP Fryns, SM van der Maarel, Fryns, J. P., Davies, E. G., De Groot, Ronald, Belohradsky, B.H., Weemaes, C. M. R., Maraschio, P., C. Schuetz, R. de Root, de Groot, R., Cant, A.J., I. Reisli, Schuetz, C., MM Hagleitner, EJA Gerritse, Gerritsen, E. J. A., Groot, R. de, Gerritsen, E.J., van Dijken, P.J., G. Gimelli, Howard, P. J., Hultén, M., MA Slatter, Fryns, J.P., A. Fasth, Lankester, A., Fasth, Anders, EG Davies, van der Maarel, S. M., Davies, E.G., Howard, P.J., Mattina, T., Cant, Andrew J., IM van Deuren, A. Lankester, Gennery, A., Cazzola, G., D. Further, AJ Cant, M. Hultèn, van Dijken, P. J., Greef, J.C. de, G. Cazzola, Fryns, Jean-Pierre, BH Belohradsky, MARASCHIO, PAOLA, Belohradsky, Bernd H., Weemaes, C.M.R., van der Maarel, S.M., A. Gennery, Fasth, A., CMR Weemaes, Gerritsen, E.J.A., Deuren, M. van, PJ van Dijken, JC de Greef, Hagleitner, M.M., de Greef, J.C., Belohradsky, B. H., Furthner, D., Gerritsen, E.JA., Slatter, M. A., Maarel, S.M. van der, Dijken, P.J. van, PJ Howard, Hultén, Maj A., De Greef, J. C.   +75 more
core   +2 more sources

Craniofacial and Dental Manifestations of Melnick–Needles Syndrome: Literature Review and Orthodontic Management

Case Reports in Pediatrics, 2018
The aim of this article was to present a characteristic clinical image of Melnick–Needles syndrome using an example of an 11.5-year-old female patient treated at the Facial Congenital Disorders Outpatient Clinic as well as to present the actual ...
Dorota Kustrzycka, Marcin Mikulewicz, Anna Pelc, Piotr Kosior, Maciej Dobrzyński   +4 more
doaj   +1 more source

Innovative Genome Joint Analysis for identification of novel deep-intronic de novo pathogenic variants in KMT2A gene - WiedemannSteiner Syndrom

Liječnički vjesnik, 2023
Heterozygous mutations in KMT2A gene are known to cause Wiedemann-Steiner Syndrome (WDSTS), a rare, autosomal dominant disease characterized by facial dysmorphism, intellectual disability, hypertrichosis cubiti, and psychomotor developmental delay. Whole
Matea Bagarić, Nives Živković Živković, Mario Ćuk   +2 more
doaj   +1 more source

Disability in a medieval village community: A unique case of facial dysmorphism [PDF]

International Journal of Paleopathology, 2021
To identify the pathology causing the severe facial dysmorphia of a medieval individual from the site of Rigny (Indre-et-Loire, France) and to evaluate its functional repercussions on the subject's hearing and social life.An individual from Rigny for the osteological study, 69 individuals from the region for the Ct-Scan study and 48 individuals from ...
Miclon, Valentin, Bédécarrats, Samuel, Laure, Boris, Zadora-Rio, Elisabeth, Gaultier, Matthieu, Coqueugniot, Hélène, Herrscher, Estelle   +6 more
openaire   +4 more sources

Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 [PDF]

Pediatric Infectious Disease, 2023
The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and centromeric instability.
Kalyani Srinivas, Prajnya Ranganath, Palle Sreelekha, Kalivela Santhimayee, Shaik Mahin   +4 more
doaj   +1 more source

DETECTION OF FACIAL DYSMORPHISM IN CENTRAL AFRICAN PATIENTS

, 2016
peer reviewedINTRODUCTION AND METHODS Recent advances in morphometric analysis have explored the possibility to perform an objective evaluation of the facial gestalt from 2D or 3D facial images and find a reliable syndrome match.
Holvoet, Maureen, Peeters, Hilde, COSMANS, Nele, Lumaka Zola, Aimé, Tshilobo LUKUSA, Prosper, LULEBO MAMPASI, Aimée, DEVRIENDT, Koenraad   +6 more
core   +2 more sources

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated
N. Pode-Shakked, O. Barel, B. Pode-Shakked, A. Eliyahu, A. Singer, Omri Nayshool, N. Kol, A. Raas‐Rothschild, E. Pras, M. Shohat   +9 more
semanticscholar   +1 more source

Cohen syndrome diagnosed using microarray comparative genomic hibridization

Iatreia, 2017
Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal
Saldarriaga-Gil, Wilmar , Collazos-Saa, Laura, Ramírez-Cheyne, Julián   +2 more
doaj   +1 more source