Results 41 to 50 of about 64,652,082 (128)

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle [PDF]

, 2020
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and ...
Fuller, Anna M., Bedwell, Patrick S., Ward, Jack A., SAnders, Stacy K., Xiang, Shi-Hua, Peng, Sichong, Steffen, David J., Sieck, Renae L., Petersen, Jessica Lynn   +8 more
core   +2 more sources

Mandibulofacial Dysostosis with Microcephaly: A Case Report and a Review of the Literature

Genetic Clinics
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome with characteristic craniofacial and external ear abnormalities and microcephaly. It is inherited in an autosomal dominant mode of inheritance with high penetrance and variable expressivity.
Naik Adarsha, Haseena Sait
openaire   +1 more source

Mandibulofacial Dysostosis, Severe Lower Eyelid Coloboma, Cleft Palate, and Alopecia: A New Distinct Form of Mandibulofacial Dysostosis or a Severe Form of Johnson-McMillin Syndrome?

, 2010
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.
Maria Leine Guion-Almeida, Fernanda Sarquis Jehee, GUION-ALMEIDA, Maria Leine, Maria Rita Santos Passos-Bueno, Katia Rocha, ZECHI-CEIDE, Roseli Maria, ROCHA, Katia, PASSOS-BUENO, Maria Rita Santos, Roseli Maria Zechi-Ceide, JEHEE, Fernanda Sarquis   +9 more
core   +1 more source

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

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

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

Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives

American Journal of Medical Genetics Part A, Volume 194, Issue 3, March 2024.
Abstract Neurodevelopmental disorders exhibit recurrent facial features that can suggest the genetic diagnosis at a glance, but recognizing subtle dysmorphisms is a specialized skill that requires very long training. Face2Gene (FDNA Inc) is an innovative computer‐aided phenotyping tool that analyses patient's portraits and suggests 30 candidate ...
Alessia Carrer, Maria Giovanna Romaniello, Maria Letizia Calderara, Milena Mariani, Andrea Biondi, Angelo Selicorni   +5 more
wiley   +1 more source

sj-xlsx-1-cpc-10.1177_10556656221136177 - Supplemental material for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Supplemental material, sj-xlsx-1-cpc-10.1177_10556656221136177 for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type by Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, Ditya ...
Lina Fitria Astari (14042497), Muhammad A’raaf Sirojan Kusuma (14042506), Gita Vita Soraya (10909487), Sarah Herawangsa (14042512), Zulvikar Syambani Ulhaq (10909484), Prida Ayudianti (14042503), Lola Ayu Istifiani (12297116), Badariyatud Dini (14042494), Syafrizal Aji Pamungkas (12297119), Ditya Arisanti (14042491), Syifaus Shodry (14042509), Dian Kesumapramudya Nurputra (14042515), William Ka Fai Tse (10889586), Yuliono Trika Nur Hasan (14042500), Sri Idaiani (14042518)   +14 more
core   +1 more source