PapersA case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screeningEllaway, C. J.a,b; Badawi, N.b,c,d; Raffaele, L.a; Christodoulou, J.a,b; Leonard, H.d Author Information aWestern Sydney Genetics Program, Royal Alexandra Hospital for Children, Sydney; bDepartment of Paediatrics and Child Health, University of Sydney; cDepartment of Neonatology, Royal Alexandra Hospital for Children, Sydney and dTVW Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, Australia Dr H. Leonard, TVW Telethon Institute for Child Health Research, PO Box 855, West Perth, WA 6872, Australia Tel: 61 8 9489 7789; Fax: 61 8 9489 7700; E-mail: [email protected] Received: 15 August 2000; accepted as revised: 3 February 2001 Clinical Dysmorphology 10(3):p 185-188, July 2001. Buy Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls with RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified in females with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonstrated deceleration of head growth and the development of expressive language was prevented by the presence of the tracheostomy. The clinical impression of RTT was confirmed by the recent finding of a mutation in the MECP2 gene. This case report highlights the importance of considering the clinical diagnosis of RTT even in the presence of other conditions and emphasises that girls with RTT may not be normal from birth. © 2001 Lippincott Williams & Wilkins, Inc.