Results 61 to 70 of about 2,017 (144)

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

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

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

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

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

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

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

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

Human Mutation, Volume 2025, Issue 1, 2025.
The genetic basis of nonsyndromic orofacial cleft (NsOFC) remains elusive, although associations have been identified with various genetic loci. NsOFC has a less pronounced genetic background than syndromic orofacial cleft (SyOFC), albeit Mendelian inheritance has been identified.
Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet, Alexander Gerdom, Nicole Revencu, Miikka Vikkula, Elfride De Baere   +8 more
wiley   +1 more source

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong   +12 more
wiley   +1 more source