| Autor: |
Ali Al Kaissi, Hela Sassi, Syrine Hizem, Nesrine Ben Mabrouk, Houweyda Jilani, Yasmina Elaribi, Omar Al Kaissi6 , Lamia Ben Jemaa, Rudolf Ganger, Vladimir Kenis, Susanne Gerit Kircher |
| Rok vydání: |
2019 |
| Předmět: |
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| Popis: |
Background : Shortness of stature, dysmorphic facial features and intellectual disability associated with a broad spectrum of variable psychotic illnesses in a multi-generation family with acrodysostosis. Patients and Methods : The index case is an 8-years-old girl and she was the key factor to explore 33 family subjects over three generations in a Tunisian family with inter-related marriages. 13 male and 20 female subjects over three generations have been studied thoroughly. Eight out of 33 family subjects from both paternal and maternal sides showed craniofacial dysmorphic features, Short stature, intellectual disability, schizophrenia, mental illnesses and other psychotic conditions. Episodes of intermittent claudication associated with walking difficulties were noted in in the index case and low back pain in other family subjects. Results : Clinical and radiological phenotypic characterization was the base line tool to approach the diagnosis of acrodysotosis type II. She and her female sibling showed similar phenotype. Six family subjects have been diagnosed previously of having schizophrenia, psychosis, Tourette’s syndrome and varying degrees of mental illnesses. Eight family subjects out of 33 manifested some of the clinical manifestations of acrodysotosis. Conventional radiographs revealed early signs of spinal stenosis. Conclusion: This is the first study of multigeneration consanguineous Tunisian family in which acrodysostosis was the key factor towards further recognition of other illnesses. Clinical phenotype was the corner stone in the diagnosis of several other affected family subjects. Acrodysostosis displayed imminent role in the pathology of multisystem involvement, specifically a wide range of psychotic illnesses and spinal stensois. Strikingly, this study confirmed that the mechanism of brain development and spinal stenosis should be almost always connected to syndromic associations. To reduce the impact and the aftermath of spinal stenosis in such situations, we need to establish proper clinical documentation of every single patient. In order to prevent and properly intervene we need to establish a distinctive methodology based on comprehensive clinical phenotypic characterization. The compatibility of the clinical phenotype with the genotype is the base line tool of long-run management. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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