Results 61 to 70 of about 1,372 (198)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

The Genetics of Acne

Annals of Human Genetics, Volume 89, Issue 5, Page 333-341, September 2025.
ABSTRACT This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated with sebaceous glands in the face and chest, which produce an oily substance called sebum.
Maurice A. M. Van Steensel
wiley   +1 more source

Choanal atresia: A review of surgical outcomes in a tertiary medical center

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 2, Page 207-212, June 2025.
Abstract Introduction Choanal atresia (CA) is a congenital narrowing or obliteration of the posterior nasal aperture. The condition is rare with an incidence of approximately 1 in 5000 to 9000 live births. Objective The aim of this work was to assess the results of treating this condition at the Otolaryngology Department in Oslo University Hospital ...
Sinan Dheyauldeen, Ketil Heimdal, Terje Osnes, Harriet Akre, Lars Olsson   +4 more
wiley   +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

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

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

Síndrome de Nager [PDF]

, 2016
Las disostosis acrofaciales incluyen un grupo heterogéneo de enfermedades con hipoplasia radial,  denominado como Síndrome de Nager, con una incidencia muy baja no precisada.
Elayne Esther Santana Hernández
core   +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