scholarly journals Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

2018 ◽  
Vol 6 (10) ◽  
pp. 1933-1940
Author(s):  
Valérie Leclercq ◽  
Valérie Benoit ◽  
Damien Lederer ◽  
Melanie Delaunoy ◽  
Marcela Ruiz ◽  
...  
Keyword(s):  
Case Report ◽  
Albright Hereditary Osteodystrophy ◽  
Gnas Mutation

scholarly journals Albright hereditary osteodystrophy: dental management case report

2018 ◽  
Vol 66 (1) ◽  
pp. 106-110
Author(s):  
Stephanie Anagnostopoulos FRIEDRICH ◽  
Jonas RODRIGUES ◽  
Berenice Barbachan e SILVA
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Enamel Hypoplasia ◽  
Phenotypic Characteristics ◽  
Genetic Origin ◽  
Albright Hereditary Osteodystrophy ◽  
Presenting Symptoms ◽  
Behavioural Difficulties ◽  
Dental Management ◽  
Dental Appointments

ABSTRACT Albright hereditary osteodystrophy is a disorder comprising phenotypic characteristics of genetic origin, such as short stature, obesity, and brachydactyly. It is a rare disorder and is related to pseudohypoparathyroidism. Within dentistry, it may be associated with enamel hypoplasia and late eruption. Furthermore, due to neurological problems, these patients may impose behavioural difficulties during dental appointments. The present study aims to describe the case of a patient with a possible diagnosis of Albright hereditary osteodystrophy, presenting symptoms and limitations to dental management.

scholarly journals Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation, the First Case Report

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Hussain Alsaffar ◽  
Najya Attia ◽  
Senthil Senniappan
Keyword(s):  
Case Report ◽  
Parathyroid Hormone ◽  
Elbow Joint ◽  
Flexion Deformity ◽  
First Case ◽  
History Of ◽  
The Right ◽  
Subcutaneous Calcification ◽  
Gnas Mutation ◽  
Fixed Flexion Deformity

Introduction: The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO). Case Presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow, associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium, indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood. Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

scholarly journals A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma

2019 ◽  
Vol 67 (3) ◽  
Author(s):  
Jacquelyn N. Crane ◽  
Vivian Y. Chang ◽  
William H. Yong ◽  
Noriko Salamon ◽  
Jessica Kianmahd ◽  
...  
Keyword(s):  
Case Report ◽  
Sonic Hedgehog ◽  
Gnas Mutation

scholarly journals Oral manifestations of Albright hereditary Osteodystrophy: a case report

2002 ◽  
Vol 57 (4) ◽  
pp. 161-166 ◽  
Author(s):  
Mônica Fernandes Gomes ◽  
Ana Maria Albernaz Camargo ◽  
Tatiane Alves Sampaio ◽  
Maria Aparecida O. C. Graziozi ◽  
Mônica Costa Armond
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Periodontal Disease ◽  
Laboratory Test ◽  
Metabolic Disorder ◽  
Clinical Case ◽  
Oral Manifestations ◽  
Albright Hereditary Osteodystrophy ◽  
Test Characteristics ◽  
Subcutaneous Calcification

Albright hereditary osteodystrophy is a hereditary metabolic disorder of dominant autosomal etiology that is commonly characterized by short stature, round face, small metacarpus and metatarsus, mental retardation, osteoporosis, subcutaneous calcification, variable hypocalcemia, and hyperphosphatemia. In this study, we report a clinical case of a 17-year-old woman with Albright hereditary osteodystrophy, and we discuss her clinical, radiographic, and laboratory test characteristics together with the oral manifestations, and we correlate them with the characteristics found in the literature. We also discuss the odontological management of treatment of related periodontal disease and planning for corrections of related malocclusions.

scholarly journals Albright hereditary osteodystrophy: A rare case report

2009 ◽  
Vol 27 (3) ◽  
pp. 184 ◽  
Author(s):  
A Singh ◽  
H Grewal ◽  
G Kumar ◽  
M Goswami ◽  
M Verma
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Albright Hereditary Osteodystrophy ◽  
Rare Case Report
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