Results 41 to 50 of about 390,574 (294)

Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study

, 2000
Exogenous retinoic acid has been found to be teratogenic in animals and man. Craniofacial defects induced by retinoic acid have stimulated considerable research interest.
Nicaise, Michèle, Foroglou, C, Persaud, TVN, Dourov, Nicolas, Thliveris, JA, Dourov, N, A. Dhem, E.-N. Emmanouil-Nikoloussp, Ch. Foroglou, Katsarma, E., Goret-Nicaise, Michèle, Emmanouil-Nikoloussi, Elpida Niki, M. Goret-Nicaise, Persaud, Trivedi V N, Thliveris, James J.A., Katsarma, E, Emmanouil-Nikoloussi, EN, Dhem, Antoine, E. Katsarma, N. Dourov, T.V.N. Persaud, Foroglou, Ch C.H., J.A. Thliveris   +22 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Management of median and paramedian craniofacial clefts

, 2019
Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity.
Pittet Cuenod, Brigitte Maud, Scolozzi, Paolo, Ruegg, Eva, Bartoli, Andréa, Montandon, Denys, Rilliet, Bénédict, Pittet-Cuénod B, Bartoli A, Scolozzi P, Rilliet B, Montandon D, Rüegg EM   +11 more
core   +1 more source

Craniofacial pain and anatomical abnormalities of the nasal cavities

Brazilian Journal of Otorhinolaryngology, 2005
The causal relation between anatomical variations of the nose and headaches and facial pain is analyzed through literature review of the topic. The pathogenesis that can be involved in this relation proves to be wider than simple alteration of nasal septum and turbinates that can cause mechanical stimulus through contact between these structures, which
de Mendonça, Jeferson Cedaro, Filho, Ivo Bussoloti   +1 more
openaire   +2 more sources

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Prevention of Retinoic Acid-Induced Early Craniofacial Abnormalities by Vitamin B12 in Mice

, 2011
Objective The purpose of the present study was to identify the potential effect of prenatal vitamin B12 administration on retinoic acid (RA)-induced early craniofacial abnormalities in mice and to investigate the possible mechanisms by which vitamin B12 ...
Zhaofeng Zhang, Xiaoqian Dai, Ye Ding, Junbo Wang, Yong Li   +4 more
core   +1 more source

Hallermann–Streiff syndrome: A systematic review of the published literature

Journal of Oral Biology and Craniofacial Research
Background: Hallermann–Streiff syndrome is an extremely rare congenital disorder characterized by craniofacial dysmorphism, ocular abnormalities, hypotrichosis, and mandibular hypoplasia, frequently associated with complex airway challenges.
Rezhat Abbas, Revathi Krishna, Aarushi Garg   +2 more
doaj   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

sj-docx-1-fac-10.1177_27325016231157984 – Supplemental material for Pediatric Insurance Coverage Variation of Orthognathic Surgery and Orthodontic Treatment for Congenital Craniofacial Abnormalities

, 2023
Supplemental material, sj-docx-1-fac-10.1177_27325016231157984 for Pediatric Insurance Coverage Variation of Orthognathic Surgery and Orthodontic Treatment for Congenital Craniofacial Abnormalities by Atharva M. Bhagwat, Cynthia T.
Atharva M. Bhagwat (14567039), Cynthia T. Yusuf (14567045), Richard J. Redett (9503411), Moreen W. Njoroge (14665795), Robin Yang (9985961), Christopher D. Lopez (6189590)   +5 more
core   +1 more source