Results 11 to 20 of about 557 (164)

Acrocallosal Syndrome in a 6-Month-Old Pakistani Infant [PDF]

Journal of Gandhara Medical and Dental Sciences, 2016
Acrocallosal syndrome is a rare autosomal recessive disorder. The prevalence of the disease is not known but fewer than 55 cases have been published since 1979.
Rifayatullah Afridi, Aneela Ambreen, Faizan Ali Janjua   +2 more
doaj   +2 more sources

Oral manifestations and uncommon finding in children with Moebius syndrome: report of two cases

Revista de Odontopediatria Latinoamericana
Moebius syndrome represents a rare congenital disorder characterized by non-progressive unilateral or bilateral paralysis of the facial and abducens nerves.
Lucas Fernando Oliveira Tomáz Ferraresso, Kátia Kely Bragança de Souza, Fábio Anevan Ubiski Fagundes, Mariella Padovese, Beatriz Cruz Lopes, Tatiane Garcia, Farli Aparecida Carrilho Boer, Cássia Cilene Dezan, Mariana Emi Nagata   +8 more
doaj   +2 more sources

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations [PDF]

Frontiers in Pediatrics, 2019
Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes.
Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza   +10 more
doaj   +3 more sources

Oral breathing: dentomaxillofacial irregularities associated with nasorespiratory and orthopedic dysfunctions. [PDF]

Medisur, 2009
Background: Human beings are conditioned to breathe through the nose and feed through the mouth, when this physiological mechanism is interrupted facial and general growth is also affected.
Clotilde de la Caridad Mora Pérez, Salamtu Habadi Amhed, Juan J. Apolinaire Pennini, Raúl López Fernández, Ivette Álvarez Mora, Humberto Agüero García   +5 more
doaj   +3 more sources

Congenital cataract and congenital glaucoma in Marshall-Smith syndrome. [PDF]

Pan Afr Med J, 2021
Marshall-Smith syndrome (MSS) is an ultra rare congenital condition (prevalence <1/1.000.000) caused by de novo mutations involving the gene nuclear factor I/X. It is characterized by increased bone age, respiratory disorders, facial abnormalities and
Sayadi J, Malek I.
europepmc   +2 more sources

Heterogeneity of Orodental Features in a Family with Noonan Syndrome. [PDF]

Int J Mol Sci
Noonan syndrome is a relatively common genetic syndrome with clinical and genetic heterogeneity. Besides the characteristic features such as short stature, typical facial features, congenital heart defects, skeletal and ocular anomalies, various ...
Antal G, Csabai L, Zsigmond A, Szanto I, Hadzsiev K, Bene J.   +5 more
europepmc   +2 more sources

Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report

Molecular Genetics &Genomic Medicine, Volume 10, Issue 12, December 2022., 2022
Nabais Sa‐de Vries syndrome (NSDVS) is a newly identified neurodevelopmental disorder (NDD). To date, only one study has been published, so little is known. Mutations in the SPOP gene, encoding the speckle‐type BTB/POZ protein, have been shown to cause NSDVS, but patients present with varied phenotypes.
Wenjing Hu, Hongjun Fang, Yu Peng, Li Li, Shulei Liu, Hongmei Liao, Jingwen Tang, Jurong Yi, Qingqing Liu, Li Xu, Liwen Wu   +10 more
wiley   +1 more source

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

Molecular Genetics &Genomic Medicine, Volume 9, Issue 10, October 2021., 2021
BWS is a rare overgrowth syndrome predisposing to various tumors. Our major concern is the multidisciplinary follow‐up to early screen tumors. Pathologists should evoke BWS in pediatric isolated adrenocortical tumors. International Databases are necessary to underline BWS’s characteristics.
Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa   +13 more
wiley   +1 more source

Potential interactions among single nucleotide polymorphisms in bone‐ and cartilage‐related genes in skeletal malocclusions

Orthodontics &Craniofacial Research, Volume 24, Issue 2, Page 277-287, May 2021., 2021
Abstract Objective To investigate SNPs in bone‐ and cartilage‐related genes and their interaction in the aetiology of sagittal and vertical skeletal malocclusions. Settings and sample population This study included 143 patients and classified as follows: skeletal class I (n = 77), class II (n = 47) and class III (n = 19); maxillary retrusion (n = 39 ...
Erika Calvano Küchler, Caio Luiz Bitencourt Reis, Julia Carelli, Rafaela Scariot, Paulo Nelson‐Filho, Ricardo D. Coletta, Aleysson Olimpio Paza, Mírian Aiko Nakane Matsumoto, Peter Proff, Christian Kirschneck   +9 more
wiley   +1 more source

Pediatric Obstructive Sleep Apnea Syndrome: Emerging Evidence and Treatment Approach

The Scientific World Journal, Volume 2021, Issue 1, 2021., 2021
OSA pediatric subjects suffer from episodes of upper airway obstruction that can be partial or complete, with atypical sleep patterns and blood‐gas level alteration. If poor treated and/or diagnosed, it can cause cardiovascular disease, learning difficulties, behavioural issues, and retardation of growth.
Maria Rita Giuca, Elisabetta Carli, Lisa Lardani, Marco Pasini, Marco Miceli, Eleonora Fambrini, Carlo Eduardo Medina-Solis   +6 more
wiley   +1 more source