Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p85 | (1) | ICCBH2019

Neonatal calcinosis cutis due to a mutation in the GNAS gene

Levy-Shraga Yael , Barel Ortal , Javasky Elisheva , Barzilai Aviv , Greenberger Shoshana

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...

ba0006p111 | (1) | ICCBH2017

Vitamin D-dependent rickets type 1 due to a novel mutation in CYP27B1

Levy-Shraga Yael , Pode-Shakked Ben , Pode-Shakked Naomi , Barel Ortal , Jacobson Jeffrey , Paret Gideon , Raas-Rothschild Annick

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...