We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320410202 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFThe Role of the LINC Complex in Ageing and Microgravity.
Mech Ageing Dev
January 2025
Department Oral & Maxillofacial Surgery/Pathology, Amsterdam Movement Sciences & Amsterdam Bone Center (ABC), Amsterdam University Medical Center location Vrije Universiteit Amsterdam & Academic Center for Dentistry Amsterdam (ACTA), Gustav Mahlerlaan 3004, 1081 LA Amsterdam, the Netherlands; TEC-MMG-LIS Lab, European Space Agency (ESA), European Space Research and Technology Center (ESTEC), Keplerlaan 1, 2201 AZ Noordwijk, the Netherlands.
The Linker of Nucleoskeleton and Cytoskeleton (LINC) complex plays a crucial role in connecting the nuclear envelope to the cytoskeleton, providing structural support to the nucleus and facilitating mechanical signaling between the extracellular environment and the nucleus. Research in mechanobiology onboard the International Space Station (ISS) and in simulated microgravity (SMG) highlight the importance of gravity in functional mechanotransduction. Although the altered gravity research regarding mechanobiology has been greatly focused on the cytoskeleton and the extracellular matrix (ECM), recent research demonstrates that SMG also induces changes in nuclear mechanics and gene expression patterns, which have been shown to be LINC complex dependent.
View Article and Find Full Text PDFEffects of irisin on ovariectomy-induced depression, anxiety, and bodyweight growth in female mice.
Peptides
January 2025
Department of Pharmacy, Shaoxing Second Hospital, Shaoxing, 312000, China.
Hormone replacement therapy (HRT) for postmenopausal syndrome (PMS) carries high risks of undesirable side effects. This study explores irisin as a potential alternative to HRT and investigates the underlying mechanisms. Ovariectomized (OVX) female mice was used as an animal model.
View Article and Find Full Text PDFSleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!