Results 61 to 70 of about 1,356 (192)

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang   +8 more
doaj   +1 more source

Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

The Laryngoscope, Volume 135, Issue S3, Page S1-S12, May 2025.
Mandibular anomalies can present with airway obstruction at birth and if patency is not quickly established, neonatal hypoxic complications or death occur. Advanced mobilization or airway intervention during sustained placental support can mitigate risk; however, the techniques can increase risks to the pregnant person.
Michael D. Puricelli, Samantha J. Barr, Johanna L. Ellefson, Maya N. Matabele, Elle C. Nuttall, Gisselle Garcia, Sabrina X. Huang, Manasa Venkatesh, Inna N. Lobeck   +8 more
wiley   +1 more source

Associated Anomalies in Radial Ray Deficiency

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co‐occurring with other, non‐RRD, congenital anomalies. The prevalence and the types of co‐occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co‐occurring congenital anomalies among cases
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A linguagem na Síndrome de Treacher Collins: uma análise dialógica

Audiology: Communication Research, 2019
RESUMO A Síndrome de Treacher Collins ou Disostose Mandibulofacial é decorrente de mutações genéticas e caracterizada por malformações craniofaciais. Crianças com essa síndrome podem apresentar dificuldades cognitivas, linguísticas e psicomotoras.
Giselle Massi, Sammia Klann Vieira, Ana Cristina Guarinello, Ana Paula Berberian Vieira da Silva, Rita Tonocchi, Frances Tockus Wosiacki   +5 more
doaj   +1 more source

Mandibulofacial dysostosis : a case report [PDF]

, 1973
A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Damato, Francis Joseph, Griscti-Soler, A.   +1 more
core  

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus

Animal Genetics, Volume 56, Issue 1, February 2025.
Abstract Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a ...
Chang He, Llorenç Grau‐Roma, Robin Schmid, Irene M. Häfliger, Mireille Meylan, Cord Drögemüller, Joana G. P. Jacinto   +6 more
wiley   +1 more source

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 [PDF]

, 2020
PURPOSE: Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2-1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due to abnormal ...
et al.,, Nephi, Walton, Sanchez, Elodie, Toler, Tomi L, Willing, Marcia   +4 more
core   +2 more sources

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance. Methods Patients were investigated by performing a cytogenetic analysis of GTG‐banded metaphases, aCGH with ...
A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev   +16 more
wiley   +1 more source

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2007
A síndrome oculoauriculovertebral, mais comumente conhecida como síndrome de Goldenhar, pode ser diagnosticada pelo dermatologista. Achados como hipoplasia/aplasia de pavilhão auricular e alterações vertebrais, e a presença de trago acessório encontrados
Maurício Pedreira Paixão, Hélio Amante Miot   +1 more
doaj   +1 more source

SOCIAL DISCRIMINATION AS PART OF THE PROCESS OF FORMING THE MAIN CHARACTER’S SOCIAL IDENTITY IN THE NOVEL WONDER BY R.J. PALACIO [PDF]

, 2020
Social discrimination is one of the problems that arises in the community from time to time. This study aims to describe the problem of social discrimination which is part of the process of forming social identity of the main character in the novel ...
Rananda, Meilyana Indi, Setyowati H, Agnes, Widisanti, Ni Made   +2 more
core   +2 more sources