DentistryOral PathologyDental RadiologyOral DiagnosisOral HistopathologyBone DisordersCongenital Craniofacial AnomaliesCongenital Oral AnomaliesCraniofacial AnomaliesDevelopmental Dental AnomaliesEnamel HypoplasiaAlbright Hereditary OsteodystrophyCraniofacial AbnormalitiesDental AbnormalitiesFace Soft TissuesFrontal Sinus AnatomyHereditary Enamel HypoplasiaMultiple Congenital AnomaliesRoot Hypoplasia
A patient with pseudohypoparathyroidism is presented. The phenotypic appearance, known as Albright heredity osteodystrophy includes: short stature, round face, brachydactylia, and ectopic calcifications in the soft tissues. Dental manifestations reported in the literature are enamel hypoplasia, hypodontia, malformed roots, enlarged pulp chambers, microdontia, and pulp calcifications. Additional findings in this case are ankylosis and an enlarged frontal sinus. The delayed diagnosis of pseudohypoparathyroidism with the early presentation of multiple dental anomalies is discussed.
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The etiology of enamel hypoplasia: A unifying concept
G. Nikiforuk, Donald Fraser · The Journal of Pediatrics · 1981 · 245 citations
Diagnostic Recognition of Genetic Disease.
Annals of Internal Medicine · 1988 · 36 citations · Full text
Life Sciences, Genetics, Hematology +15