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ey0021.15-9 | Artificial Intelligence | ESPEYB21

15.9. Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

S Ciancia , WJ Goedegebuure , LN Grootjen , ACS Hokken-Koelega , GF Kerkhof , DCM. van der Kaay

In Brief: The authors tested the diagnostic ability of the Face2Gene app in 23 children with a clinical or genetically confirmed diagnosis of Silver-Russell syndrome (SRS) and 29 children with genetically confirmed Prader-Willi syndrome (PWS). When combined with careful routine clinical history and examination, the Face2Gene app can be a useful diagnostic tool.Among PWS patients, Face2Gene calculated the top 1, top 5, and top 10 sensitivities to be 76%, ...

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ey0019.13-12 | Diabetes | ESPEYB19

13.12. Approach to diagnosing a pediatric patient with severe insulin resistance in low- or middle-income countries

AA van Heerwaarde , RCW Klomberg , CMA van Ravenswaaij-Arts , HK Ploos van Amstel , Toekoen A , F Jessurun , A Garg , DCM van der Kaay

d.vanderkaay@erasmusmc.nl or abhimanyu.garg@utsouthwestern.edu.J Clin Endocrinol Metab 2021, 106, 36213633. doi: 10.1210/clinem/dgab549Brief Summary: This expert perspective proposes that a thorough review of medical history and physical examination is generally sufficient to diagnose ...

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ey0021.4-6 | Important for Clinical Practice | ESPEYB21

4.6. Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

JS Renes , AMJ Reedijk , M Losekoot , SG Kant , M Van der Steen , DCM Van der Kaay , ACS Hokken-Koelega , HA Van Duyvenvoorde , C de Bruin

Brief Summary: This study describes the clinical characteristics of pathogenic variants in the ACAN gene and the response to rhGH treatment over three years in children with a heterozygous ACAN variant. The results indicate that rhGH therapy may be considered to reduce the height deficit in these patients, particularly in prepubertal children with ACAN deficiency.Aggrecan is the major proteoglycan of the cartilage growth plate. Homozygo...

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ESPE Yearbook of Paediatric Endocrinology

15.9. Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

13.12. Approach to diagnosing a pediatric patient with severe insulin resistance in low- or middle-income countries

4.6. Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

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