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Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome
المؤلفون المشاركون
Kozhevnikov, Oleg
Kralina, Svetlana
Yurasova, Yulia
Kenis, Vladimir
Kircher, Susanne Gerit
Al Kaissi, Ali
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-07-11
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Purpose.
Progressive deformity of the lower limbs can be encountered in a long list of syndromic associations.
The baseline tool in the management of such disorders is to approach to a definite diagnosis.
Methods.
We describe a 4-year-old girl who presented with the clinical phenotype and genotype of congenital erythrokeratoderma, keratosis, and sensorineural hearing loss (keratitis-ichthyosis-deafness syndrome) (KID syndrome).
She manifested progressive contractures of the knees associated with talipes equinovarus of the feet.
The latter deformities were the main reasons behind her severe retardation in acquiring the normal locomotor functions.
Results.
The analysis revealed mutations in intron 1 of the GJB2 gene of C.32G>A (p.Gly11Glu) and c.35delG in the compound heterozygous state.
The presence in the genotype of the “dominant” mutation c.32G>A (p.Glu11Glu) was compatible with the clinical phenotype of KID syndrome.
Conclusion.
Surgical interventions through the extension of the hamstring tendons have been performed successfully via the application of an external distraction apparatus, namely, Volkov- Oganesyan.
The latter procedures resulted in total release of her awkward knee contractures.
Eventually, the child was able to regain the physiological alignment of her lower limbs and resume walking.
To the best of our knowledge, the overall management of this child could be the first in the literature.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kozhevnikov, Oleg& Kralina, Svetlana& Yurasova, Yulia& Kenis, Vladimir& Kircher, Susanne Gerit& Al Kaissi, Ali. 2020. Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome. Case Reports in Orthopedics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150028
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kozhevnikov, Oleg…[et al.]. Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome. Case Reports in Orthopedics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1150028
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kozhevnikov, Oleg& Kralina, Svetlana& Yurasova, Yulia& Kenis, Vladimir& Kircher, Susanne Gerit& Al Kaissi, Ali. Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome. Case Reports in Orthopedics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150028
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1150028
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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