Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong, China
ACC Ho (何智聰) MBBS, MRCPCH
SY Chan (陳樹仁) MRCPCH, FHKAM(Paed)
PC Chow (周百昌) MBBS, MRCP(UK), FHKAM(Paed)
KT Wong (黃健德) MBBS, MRCP(UK), FHKAM(Paed)
KS Lun (倫建成) FRCP(Edin), FHKAM(Paed), FHKCPaed
KT Chau (周啟東) FRCPCH, FHKAM(Paed), FHKCPaed
YL Lau (劉宇隆) MD
BHY Chung (鍾侃言) MBBS(Hons), FHKAM(Paed), FCCMG(Clinical Genetics)
Clinical Genetic Service, Department of Health, Hong Kong, China
IFM Lo (盧輝文) FHKAM(Paed), FHKCPaed
STS Lam (林德深) MD, FRCP
Correspondence to: Dr BHY Chung
Received January 20, 2012
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterised by unique facial dysmorphology and aggressive vasculopathy. It is caused by mutations in genes encoding transforming growth factor beta receptor Type 1 or Type 2 (TGFBR1 and TGFBR2). There is substantial phenotypic overlap with other connective tissue disorders, especially Marfan syndrome. We present 2 patients whom we previously reported to have Marfan-like phenotype. They were reassessed clinically and molecularly and confirmed to have Loeys-Dietz syndrome. It is of vital importance for paediatricians to recognise this recently described connective tissue disorder in order to provide appropriate surveillance and early intervention to improve the prognosis.