Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
نویسندگان
چکیده
منابع مشابه
Mowat-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...
متن کاملMowat-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 کاملMowat-Wilson syndrome: clinical and molecular report of the first case in mainland China
Mowat-Wilson syndrome (MWS, MIM #235730) is a rare genetic disorder characterized by moderate-tosevere mental retardation, a recognizable facial gestalt and multiple congenital anomalies. The striking facial phenotype in addition to other features such as microcephaly, congenital heart defects, Hirschsprung disease (HSCR), severely delayed motor/speech development, seizures, short stature, corp...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2020
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000511609