The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Chung-Lin Lee; Chih-Kuang Chuang; Huei-Ching Chiu; Ru-Yi Tu; Yun-Ting Lo; Ya-Hui Chang; Hsiang-Yu Lin; Shuan-Pei Lin

doi:10.1016/j.ymgmr.2021.100768

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Mol Genet Metab Rep. 2021 May 7:27:100768. doi: 10.1016/j.ymgmr.2021.100768. eCollection 2021 Jun.

Authors

Chung-Lin Lee^{1

2

3}, Chih-Kuang Chuang^{4

5}, Huei-Ching Chiu⁶, Ru-Yi Tu⁴, Yun-Ting Lo⁷, Ya-Hui Chang^{6

7}, Hsiang-Yu Lin^{4

6

7

8

9

10}, Shuan-Pei Lin^{4

6

7

10

11}

Affiliations

¹ Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan.
² Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
³ Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁴ Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
⁵ College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.
⁶ Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
⁷ Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
⁸ MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
⁹ Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.
¹⁰ Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
¹¹ Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

Abstract

SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. Metabolic anomalies such as insulin resistance and diabetes are also present. This disease is related to heterozygous variants in the PIK3R1 and is inherited in an autosomal-dominant manner. In this case report, we present a Taiwanese boy with SHORT syndrome who had growth retardation and dysmorphic features, including a triangular face, prominent forehead, and small chin. We performed anthropometric and laboratory measurements and imaging examinations. We noted no insulin resistance or diabetes. We performed whole exome and Sanger sequencing and confirmed the underlying genetic variant, detecting a heterozygous variant of PIK3R1 (NM_181523.3) (c.1945C > T). In a family survey, his parents indicated no similar clinical symptoms and no gene variant. This case is the first SHORT syndrome in Taiwan. Specific facial dysmorphisms of this case help us confirm the diagnosis with timely genetic testing and then we can provide appropriate management and proper care.

Keywords: PIK3R1; SHORT syndrome; Short stature; Taiwan; Whole exome sequencing.

Publication types

Case Reports