Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p193 | (1) | ICCBH2019

Double trouble: A case of trisomy 21 and achondroplasia

Todd Stacey , Mason Avril , McDevitt Helen

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...

ba0007p193 | (1) | IMPE2023

Double trouble: A case of trisomy 21 and achondroplasia

Todd Stacey , Mason Avril , McDevitt Helen

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...