Judith Babar

Abstract Spontaneous pneumothorax is a common respiratory presentation that may signal underlying genetic disease. Familial pneumothorax occurs in ~10% of primary cases, yet 75% remain genetically unclassified. We report identical twin brothers presenting with spontaneous pneumothoraces in adulthood, leading to a diagnosis of Tatton-Brown-Rahman syndrome (TBRS), a DNMT3A-related overgrowth disorder not previously associated with pneumothorax.

Combining clinical, radiological and genetic approaches to pneumothorax management Hannah L Grimes1, Simon Holden2, Judith Babar3, Sumit Karia3, Maria TA Wetscherek3, Allanah Barker3, Jurgen Herre4, Martin D Knolle4, Eamonn R Maher5, Genomics England Research Consortium, Stefan John Marciniak1,4,6,7 1 Medicine, Cambridge University, Cambridge, UK 2 Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK 3 Department of Radiology, Addenbrooke's Hospital, Cambridge, UK 4 Addenbrooke's...

Combining clinical, radiological and genetic approaches to pneumothorax management Hannah L Grimes1, Simon Holden2, Judith Babar3, Sumit Karia3, Maria TA Wetscherek3, Allanah Barker3, Jurgen Herre4, Martin D Knolle4, Eamonn R Maher5, Genomics England Research Consortium, Stefan John Marciniak1,4,6,7 1Medicine, Cambridge University, Cambridge, UK 2Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK 3Department of Radiology, Addenbrooke's Hospital, Cambridge, UK 4Addenbrooke's Hospital,...