منابع مشابه
Mowat-Wilson syndrome.
Correspondence: Carlos Eduardo Steiner; Rua Tessália Vieira de Camargo, 126; 13083-887 Campinas SP; Brasil; E-mail: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 11 November 2014 Accepted 01 December 2014 As medical specialties, Neurology, Psychiatry, and Clinical Genetics share many affinities, not only because 80% of the human genome is exp...
متن کاملMowat-Wilson syndrome
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-sh...
متن کاملMowat-Wilson syndrome.
MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary a...
متن کاملOutcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome.
PURPOSE Mowat-Wilson syndrome (MWS) is a developmental disorder presenting with mental retardation, delayed motor development, and a wide spectrum of clinical features. Hirschsprung's disease (HD) is associated in almost 50% of cases. This report aims to analyze the course of HD and to evaluate the clinical outcomes of these patients. PATIENTS AND METHODS Between 1997 and 2007, 110 patients p...
متن کاملMowat-Wilson syndrome: neurological and molecular study in seven patients.
OBJECTIVE To present a seven-cases serie of Mowat-Wilson syndrome (MWS). METHOD All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. RESULTS A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and ada...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.5.305