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.
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http://dx.doi.org/10.1177/1055665618814661 | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
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.
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 PDFFront Endocrinol (Lausanne)
October 2024
Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
JBJS Case Connect
July 2024
Department of Orthopaedic Surgery, Aichi Children's Health and Medical Center, Obu, Aichi, Japan.
J Belg Soc Radiol
August 2024
Department of Medical Imaging (Musculoskelettal Imaging Unit), Saint-Luc University Clinics, avenue Hippocrate 10, 1200 Bruxelles, Belgium.
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