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A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant

A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant 32 Short case report A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant Ajay Beriwal, Lakshita Chauhan, Amit Kumar and Aradhana Dwivedi Clinical Dysmorphology 2023, 32:32–35 Correspondence to Aradhana Dwivedi, DM (Medical Genetics), Division of Clinical Genetics, Department of Pediatrics, Army Hospital Research and Division of Clinical Genetics, Department of Pediatrics, Army Hospital Research Referral, Dhaulakuan, Delhi cantt, New Delhi 110010, India and Referral, New Delhi, India Tel: +919612112101; e-mail: aradhanakd@gmail.com Received 30 August 2021 Accepted 9 September 2022 List of key features clinodactyly and bilateral overriding of third toe over Short stature fourth toe (Fig. 1). Formal assessment of DQ/IQ by VSMS Intellectual disability and DST (development screening test) was suggestive of Low set ears severe disability in developmental and social function. Triangular facies On CNS examination cranial nerves, motor, sensory, and Small palpebral fissure cerebellar system was normal. No spinal abnormality was Esotropia noticed. Rest of the systemic examination was unremark- Microstomia able. Hearing and eye evaluation including fundus exam- Long philtrum ination did not detect any abnormality. In view of similar Bilateral clinodactyly complaints in 7 years old younger brother, he was also Bilateral overriding of third toe over fourth toe http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant

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References (5)

Publisher
Wolters Kluwer Health
Copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/mcd.0000000000000439
Publisher site
See Article on Publisher Site

Abstract

32 Short case report A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant Ajay Beriwal, Lakshita Chauhan, Amit Kumar and Aradhana Dwivedi Clinical Dysmorphology 2023, 32:32–35 Correspondence to Aradhana Dwivedi, DM (Medical Genetics), Division of Clinical Genetics, Department of Pediatrics, Army Hospital Research and Division of Clinical Genetics, Department of Pediatrics, Army Hospital Research Referral, Dhaulakuan, Delhi cantt, New Delhi 110010, India and Referral, New Delhi, India Tel: +919612112101; e-mail: aradhanakd@gmail.com Received 30 August 2021 Accepted 9 September 2022 List of key features clinodactyly and bilateral overriding of third toe over Short stature fourth toe (Fig. 1). Formal assessment of DQ/IQ by VSMS Intellectual disability and DST (development screening test) was suggestive of Low set ears severe disability in developmental and social function. Triangular facies On CNS examination cranial nerves, motor, sensory, and Small palpebral fissure cerebellar system was normal. No spinal abnormality was Esotropia noticed. Rest of the systemic examination was unremark- Microstomia able. Hearing and eye evaluation including fundus exam- Long philtrum ination did not detect any abnormality. In view of similar Bilateral clinodactyly complaints in 7 years old younger brother, he was also Bilateral overriding of third toe over fourth toe

Journal

Clinical DysmorphologyWolters Kluwer Health

Published: Jan 3, 2023

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