Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism.

Cleft Palate Craniofac J

1 Oral and Maxillofacial Surgery Department, Roger Salengro Hospital, CHU Lille, University of Lille, Lille, France.

Published: July 2019

Introduction: The clinical phenotype of pseudohypoparathyroidism (PHP) is caused by Albright's Hereditary Osteodystrophy (AHO). Often, "round face" the only facial clinical sign reported in the literature. The aim of this study was to highlight various cranio-maxillofacial clinical findings associated with AHO.

Results: Four patients presented with PHP type 1a. Only one patient exhibited the classical round face. All patients exhibited dental anomalies, class III malocclusion with maxillary retrusion, and a copper beaten appearance of the skull. One suffered from craniosynostosis.

Conclusion: The frequency of craniofacial and dental features associated with malocclusion should prompt careful follow-up, particularly during facial growth, in patients with AHO.

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665618814661DOI Listing

Publication Analysis

Top Keywords

albright's hereditary
8
hereditary osteodystrophy
8
cranio-maxillofacial dental
4
dental findings
4
findings albright's
4
osteodystrophy pseudohypoparathyroidism
4
pseudohypoparathyroidism introduction
4
introduction clinical
4
clinical phenotype
4
phenotype pseudohypoparathyroidism
4

Similar Publications

Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.

Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.

View Article and Find Full Text PDF

Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae.

Int J Mol Sci

November 2024

Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.

(Guanine Nucleotide-Binding Protein, Alpha Stimulating) is a complex gene that encodes the alpha subunit of the stimulatory G protein (Gα), critical for signaling through various G protein-coupled receptors. Inactivating genetic and epigenetic changes in , resulting in Gα deficiency, cause different variants of pseudohypoparathyroidism, which may manifest features of Albright hereditary osteodystrophy (AHO, a syndrome characterized by early-onset obesity and other developmental defects). Recent findings have linked Gα deficiency with isolated, severe, early-onset obesity, suggesting it as a potential, underrecognized cause of monogenic, non-syndromic obesity.

View Article and Find Full Text PDF
Article Synopsis
  • This report investigates a family with familial isolated hypoparathyroidism (FIH), highlighting a specific mutation that leads to high levels of functionally inactive parathyroid hormone (PTH) in a 34-year-old woman and her siblings.* -
  • The siblings were diagnosed with pseudohypoparathyroidism type 1b, characterized by chronic low calcium levels and elevated PTH, but without the typical features of related disorders.* -
  • Treatment with teriparatide, a recombinant human PTH, successfully normalized calcium levels and improved wellbeing for the patient, indicating that inactive variants of PTH can lead to complex hypocalcemia cases.*
View Article and Find Full Text PDF
Article Synopsis
  • Burosumab is a new medication designed for treating disorders related to hereditary fibroblast growth factor 23 (FGF23), specifically hypophosphatemia.
  • An 11-year-old girl with McCune-Albright syndrome suffered from low phosphate levels and multiple bone lesions due to excess FGF23, but her condition improved significantly with burosumab treatment.
  • This case marks the first instance of burosumab improving bone lesions in a patient with McCune-Albright syndrome, highlighting its potential therapeutic benefits.
View Article and Find Full Text PDF

Albright's Hereditary Osteodystrophy: A Rare Genetic Disorder Diagnosed on Standard Radiography.

J Belg Soc Radiol

August 2024

Department of Medical Imaging (Musculoskelettal Imaging Unit), Saint-Luc University Clinics, avenue Hippocrate 10, 1200 Bruxelles, Belgium.

Article Synopsis
  • - Certain genetic syndromes can be identified through unique traits visible in medical imaging.
  • - Radiological findings can provide critical clues that help in diagnosing these syndromes.
  • - This means that doctors can sometimes diagnose genetic disorders by looking at X-rays or other imaging techniques rather than just relying on physical exams.
View Article and Find Full Text PDF

Want 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!