PMC8627147_01
family pedigree
PAMJ-40-105-g001.jpg
PMC8627147_01_PAMJ-40-105-g001.jpg
F1
Case 1 {(1V/12), Figure 1}: a 7-month-old female presented with multiple bone fractures and was accidentally found to have hypercalcemia on routine investigations. Case 2 {(1V/13),(Figure 1)} a younger male sibling, presented at the age of 8 months with a history of chronic constipation, abdominal pain, polyuria, failure to thrive, and floppiness since birth. a younger male sibling, presented at the age of 8 months with a history of chronic constipation, abdominal pain, polyuria, failure to thrive, and floppiness since birth. Case 3 {(1V/14), (Figure 1)}: the younger sibling presented post-delivery with severe symptoms of hypercalcemia, bone fractures and respiratory distress that required ventilatory support. Further medical data was difficult to access as this patient was born abroad in Saudi Arabia (Figure 1).