Bone Abstracts

Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disorder caused by mutations in the gene GNAS. It is characterized by multi-hormone resistance, obesity, cognitive impairment and the Albright hereditary osteodystrophy phenotype. A recent study found a 4.4-fold increase risk of sleep apnea in children with PHP1A compared with similarly obese children.Objective: To describe a case of morbid obesity and respiratory failure in ...

Background: Calcinosis cutis, the deposition of insoluble calcium salts in the cutaneous and subcutaneous tissue, is rare during infancy. Calcifications are most frequently reported after subcutaneous fat necrosis, hypothermia in neonates or following extravasation of calcium gluconate.Presenting problem: The patient was born at term by caesarean section because of fetal distress; the birth weight was 2426 g. At age 4 weeks, he was admitted to the hospit...

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe an infant with IHH due to a novel CYP24A1 mutation and a unique neurological presentation.Case presentation: The patient was born at term after normal pregnancy to healthy non-cons...

Background: Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1. This gene encodes the 1α-hydroxylase enzyme which converts 25-hydroxy vitamin D to the active form 1,25-dihydroxyvitamin D.Objective: To describe a case of VDDR-1due to a novel CYP27B1 mutation.Presenting problem: A 27-month-old female was admitted to the Pediatric Intensive Care Unit...