Results 121 to 130 of about 436,684 (219)

NRXN1-related disorders, attempt to better define clinical assessment

Open Medicine
NRXN1-related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic seizures, and motor ...
Pavone Piero, Pappalardo Xena Giada, Parano Claudia, Falsaperla Raffaele, Corsello Antonio, Parano Enrico, Polizzi Agata, Ruggieri Martino   +7 more
doaj   +1 more source

Uncovering Frailty in Burning Mouth Syndrome: Insights From a SUNFRAIL+ Based Multidimensional Assessment

Journal of Oral Rehabilitation, Volume 53, Issue 7, Page 1347-1362, July 2026.
Burning Mouth Syndrome patients showed a markedly higher frailty alert rate than controls using the SUNFRAIL+ multidimensional screening tool, with increased polypharmacy, cognitive decline, reduced mobility and depressive symptoms. These findings suggest that BMS is associated with a broader frailty profile requiring integrated physical, cognitive and
Federica Canfora, Giulia Ottaviani, Antonietta Argiuolo, Alessandra Giorgiutti, Guido Iaccarino, Katia Rupel, Sabina Saccomanno, Vincenzo De Luca, Michele Virgolesi, Elizabeth Moloney, Rónán O'Caoimh, Giuseppe Liotta, Michele Davide Mignogna, Maddalena Illario, Daniela Adamo   +14 more
wiley   +1 more source

Association of the Disheveled 2 (DVL2) Gene c.2044delC Variant with Increased Risk of Canine Cleft Palate

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Canine congenital cleft palate is one of the most common craniofacial anomalies in dogs, characterized by a failure of the palatal shelves to fuse properly during fetal development, leading to abnormal communication between the oral and nasopharyngeal cavities.
Jonas Donner, Marjo Hytönen, Jamie Freyer, Hannes Lohi, Rebecca Chodroff Foran, Oliver P. Forman   +5 more
wiley   +1 more source

Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by
Slatter MA, Gennery AR, Lankester AC, Hagleitner MM, Weemaes C, Bredius RG, Cant AJ   +6 more
core  

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

[PROVISIONAL] Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Genetics and Molecular Biology
Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses
Jakeline Santos Oliveira, Tatiana Mozer Joaquim, Rosana Aparecida Bicudo da Silva, Deise Helena de Souza, Lúcia Regina Martelli, Danilo Moretti-Ferreira   +5 more
doaj   +1 more source

Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management—Case Reports and Literature Review

Diseases
Background: Short stature is a frequent clinical problem with a broad differential diagnosis. Emerging evidence indicates that pathogenic variants in the ACAN gene represent an underrecognized cause of growth failure and are often misclassified as ...
Aleksandra Sosin, Tetiana Tkachuk, Aleksandra Furtak, Magdalena Janeczko, Karol Stożek, Teofila Książek, Helena Poławska, Damian Loska, Sebastian Wardak, Jerzy Starzyk, Dominika Januś   +10 more
doaj   +1 more source

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma

, 2006
We report on a 17-year-old boy with a unique lymphocyte mitomycin-C (MMC)-sensitive chromosomal breakage syndrome. He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or ...
Schindler, Detlev, Mohamed, Anwar N., Ravindranath, Yaddanapudi, Madgy, David, Abella, Esteban, Bakhshi, Sameer, Joenje, Hans, Oostra, Anneke   +7 more
core   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

A Cranio-Facial Dysmorphic Foetus; A New Syndrome?

Journal of Nepal Paediatric Society, 2013
Cranial Neural Crest (CNC) cells interact with and are consequently instructed by the pharyngeal endoderm, the branchial arch ectoderm, and the isthmic organizer at the midbrain– hindbrain boundary before giving rise to various types of tissues such as bone, cartilage, tooth, and cranial nerve ganglia in the craniofacial region.
openaire   +2 more sources