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Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient

Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome... Short case report 25 Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient a b c Engin Demir , Ümmühan Öncül , Merve Havan , a b c Ceyda Tuna Kırsaçlıoğlu , Fatma Tuba Eminoğlu , Tanıl Kendirli , a a Zarife Kuloğlu and Aydan Kansu Clinical Dysmorphology 2023, 32:25–28 Correspondence to Engin Demir, MD, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Division of Gastroenterology, Hepatology and Nutrition, Department of Ankara, Turkey Pediatrics, Faculty of Medicine, Ankara University, Division of Pediatric Tel: +90 505 395 04 45; e-mail: engindemir777@gmail.com Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University and Department of Pediatric Critical Care Medicine, Ankara University Faculty Received 6 March 2022 Accepted 14 August 2022 of Medicine, Ankara, Turkey List of key features wrinkled palms, thenar-hypothenar muscle atrophy, finger Liver failure contractures, extremity contractures, joint laxity, incon- Hepatosplenomegaly solable crying, hypotonia, delayed motor skills, unusual Joint contractures responds, and exaggerated deep tendon reflexes were Hypotonia noticed in physical examination (Fig. 1). Her blood tests Global developmental delay revealed trombocytopenia (85  000/mm ), hypoglycemia (49 mg/dl), hypoproteinemia-hypoalbuminemia (4.6 and 2.9 g/dl, respectively), increased alanine aminotransferase Introduction Pediatric http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient

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References (12)

Publisher
Wolters Kluwer Health
Copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/mcd.0000000000000435
Publisher site
See Article on Publisher Site

Abstract

Short case report 25 Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient a b c Engin Demir , Ümmühan Öncül , Merve Havan , a b c Ceyda Tuna Kırsaçlıoğlu , Fatma Tuba Eminoğlu , Tanıl Kendirli , a a Zarife Kuloğlu and Aydan Kansu Clinical Dysmorphology 2023, 32:25–28 Correspondence to Engin Demir, MD, Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Division of Gastroenterology, Hepatology and Nutrition, Department of Ankara, Turkey Pediatrics, Faculty of Medicine, Ankara University, Division of Pediatric Tel: +90 505 395 04 45; e-mail: engindemir777@gmail.com Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University and Department of Pediatric Critical Care Medicine, Ankara University Faculty Received 6 March 2022 Accepted 14 August 2022 of Medicine, Ankara, Turkey List of key features wrinkled palms, thenar-hypothenar muscle atrophy, finger Liver failure contractures, extremity contractures, joint laxity, incon- Hepatosplenomegaly solable crying, hypotonia, delayed motor skills, unusual Joint contractures responds, and exaggerated deep tendon reflexes were Hypotonia noticed in physical examination (Fig. 1). Her blood tests Global developmental delay revealed trombocytopenia (85  000/mm ), hypoglycemia (49 mg/dl), hypoproteinemia-hypoalbuminemia (4.6 and 2.9 g/dl, respectively), increased alanine aminotransferase Introduction Pediatric

Journal

Clinical DysmorphologyWolters Kluwer Health

Published: Jan 23, 2023

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