RT Journal Article
SR Electronic
T1 Early diagnosis of Malan syndrome in an infant presenting with macrocephaly
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e249391
DO 10.1136/bcr-2022-249391
VO 15
IS 11
A1 Seed, Lydia
A1 G, Natasha
A1 Prentice, Sarah
A1 Chandershekar, Prathiba
YR 2022
UL http://casereports.bmj.com/content/15/11/e249391.abstract
AB We present an infant with persistent macrocephaly and developmental delay. There is a wide range of differential diagnoses for this presentation, including many rare genetic conditions. Here, a diagnosis of Malan syndrome was made—a rare overgrowth syndrome caused by haploinsufficiency of NFIX and features affecting the neurological and musculoskeletal systems. Improvements in genomic medicine technologies and clinical services have revolutionised the way clinicians diagnose rare diseases. We highlight the importance of early genetic testing, particularly if there are red flag features such as developmental delay, and the need for a coordinated strategy to improve the management of rare diseases like Malan syndrome.