Syndromes/Craniofacial Anomalies
Saloni Patel, DMD (she/her/hers)
Pediatric Dental Resident
Rutgers School of Dental Medicine, Newark, NJ
Rutgers School of Dental Medicine
Sayreville, New Jersey, United States
Madhu Mohan, DMD
Rutgers School of Dental Medicine
Madhu Mohan, DMD
Rutgers School of Dental Medicine, Newark, NJ
Newark, New Jersey, United States
Introduction: Hypophosphatasia is an uncommon inherited disorder which can lead to growth and development defects ranging from stillbirth to early exfoliation of primary dentition. Different forms of hypophosphatasia have differing inheritance patterns and degrees of symptom severity. Overarchingly, the condition causes defective bone and tooth mineralization. Mutations in the ALP gene for such patients lead to low activity of the tissue nonspecific alkaline phosphatase enzyme. Normally, inorganic pyrophosphate impedes mineralization and the enzyme impacted by the ALPL gene leads to an inability to break down inorganic pyrophosphate, causing defective mineralization.
Case Report: This presentation follows a child who has been an active patient at the Rutgers School of Dental Medicine’s pediatric clinic for over 2 years. The patient had been diagnosed with hypophosphatasia at a young age and has a robust interdisciplinary healthcare team, including a pediatric dentist. This case report will detail the clinical and radiographic findings of hypophosphatasia as well as treatment planning modifications that are indicated in the highlighted demographic.
Identify Supporting Agency and Grant Number: Research of case report is supported by Rutgers School of Dental Medicine