Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

2003 ◽  
Vol 116A (4) ◽  
pp. 385-388 ◽  
Author(s):  
L. Garavelli ◽  
A. Donadio ◽  
C. Zanacca ◽  
G. Banchini ◽  
E. Della Giustina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung Disease ◽  
Facial Features

Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children

2001 ◽  
Vol 10 (3) ◽  
pp. 157-163 ◽  
Author(s):  
H. K????ri??inen ◽  
C. Wallgren-Pettersson ◽  
A. Clarke ◽  
H. Pihko ◽  
H. Taskinen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung Disease ◽  
Facial Features

scholarly journals Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

2021 ◽  
Author(s):  
Aleksandra Jakubiak ◽  
Krzysztof Szczałuba ◽  
Magdalena Badura-Stronka ◽  
Anna Kutkowska-Kaźmierczak ◽  
Anna Jakubiuk-Tomaszuk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Hirschsprung Disease ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

2003 ◽  
Vol 120A (4) ◽  
pp. 564-565 ◽  
Author(s):  
Carlos Eduardo Steiner ◽  
Marilisa Mantovani Guerreiro ◽  
Antonia Paula Marques-de-Faria
Keyword(s):  
Mental Retardation ◽  
Facial Features

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

scholarly journals Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome

2020 ◽  
Vol 11 (5-6) ◽  
pp. 296-301
Author(s):  
Durdugul Ayyildiz Emecen ◽  
Esra Isik ◽  
Gulen E. Utine ◽  
Pelin O. Simsek-Kiper ◽  
Tahir Atik ◽  
...  
Keyword(s):  
Heart Defects ◽  
Hirschsprung Disease ◽  
Molecular Spectrum ◽  
Facial Features ◽  
Laboratory Findings ◽  
Brain Anomalies ◽  
Sequencing Method ◽  
Genitourinary Anomalies ◽  
Recorded Data ◽  
Hanging Columella

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease, genitourinary anomalies, various structural brain anomalies, and intellectual disability. Pathogenic mutations that result in haploinsufficiency in the <i>ZEB2</i> gene cause MWS. In this study, we aimed to evaluate the clinical features and molecular analysis results of 4 MWS patients. All patients were examined by an expert clinical geneticist. Dysmorphological abnormalities were recorded. Data including demographic, clinical, and laboratory findings were obtained from hospital records. <i>ZEB2</i> gene analysis was performed using a Sanger sequencing method. All patients had typical facial features of MWS such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes. Four different heterozygous mutations were identified; 2 mutations were frameshift (c.246_247delGGinsC, c.980_980delG), 1 was nonsense (c.2083C&#x3e;T), and 1 was splice site (c.808–2A&#x3e;G). Two of them (c.246_247delGGinsC, c.980_980delG) have not been previously reported in the literature. By defining 2 novel mutations, this study contributes to the molecular spectrum of MWS, while also providing a further insight for genetic counseling. It also demonstrates the importance of dysmorphological examination in clinical diagnosis.

Craniosynostosis in Kabuki syndrome

2010 ◽  
Vol 6 (2) ◽  
pp. 198-201 ◽  
Author(s):  
Juan F. Martínez-Lage ◽  
Matías Felipe-Murcia ◽  
Encarna Guillén Navarro ◽  
María-José Almagro ◽  
Antonio López López-Guerrero ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Surgical Correction ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Neurological Manifestations ◽  
Skeletal Anomalies ◽  
Moderate Mental Retardation ◽  
Cns Anomalies

Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.

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