Vici syndrome in siblings born to consanguineous parents
| Autor: | Ihsan Yuce, Sener Tasdemir, Ibrahim Sahin, Atilla Cayir, Abdulgani Tatar, Serdar Ceylaner |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Male
Parents 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Septum secundum Pulmonary insufficiency Consanguinity Corpus callosum Cataract Craniofacial Abnormalities 03 medical and health sciences Internal medicine Congenital Bilateral Cataracts Genetics medicine Humans Laryngomalacia Abnormalities Multiple Family Vici syndrome Genetics (clinical) business.industry Siblings Brain Infant medicine.disease Magnetic Resonance Imaging Muscular Atrophy 030104 developmental biology Endocrinology Agenesis Agenesis of Corpus Callosum business |
| Zdroj: | American Journal of Medical Genetics Part A. 170:220-225 |
| ISSN: | 1552-4825 |
| Popis: | Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. Magnetic resonance imaging (MRI) of the brain confirmed agenesis of corpus callosum in both patients. Secundum type atrial septal defect (in Patient 1) and mild mitral, tricuspid, and pulmonary insufficiency (in Patient 2) were detected by echocardiographic examination. Immunological studies were normal, as were chromosome karyotype analyses (46, XY). Both children had bilateral cutaneous syndactyly between second and third toes and also bilateral sensorineural hearing loss. Patient 1 had poor feeding and regurgitation necessitating a feeding tube; mild laryngomalacia was subsequently detected by bronchoscopy. Mutation analysis in patient 2 showed a homozygous p.R2483* (c.7447C > T) mutation in EPG5 gene. We report a summary of the clinical findings in our patients and 29 cases from the literature. |
| Databáze: | OpenAIRE |
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