CASE REPORT
SHORT syndrome in an 11-year-old boy – case report
1
Chair and Department of Paediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Zabrze, Poland
2
MedGen Medical Centre, Warsaw, Poland
3
Department of Pediatrics, Municipal Integrated Hospital, Częstochowa, Poland
Submission date: 2019-10-15
Final revision date: 2019-11-18
Acceptance date: 2019-11-18
Publication date: 2019-12-31
Pediatr Pol 2019;94(6):379-384
KEYWORDS
TOPICS
ABSTRACT
SHORT syndrome is a rare inherited autosomal-dominant disease. It has been clinically defined by its acronym: short stature, hyperextensibility of joints or hernia or both, ocular depression, Rieger abnormality, and teething delay. The prevalence of SHORT syndrome in the general population is still unknown. In this manuscript, we would like to present an 11-year-old boy with SHORT syndrome. He presented hypostature (121.3 cm) and low body weight (19.6 kg) in clinical examination. Furthermore, shortening of the forearm bones, incomplete teeth, and dysmorphia of the face (triangular-shaped face, prominent forehead, eye depression, narrow nose, slightly bent downwards, corners of the mouth directed downwards) were noticed. Molecular analysis of selected regions of the phosphatidylinositol 3 kinase-PIK3R1 gene showed the mutation Arg649Trp (R649W) in one allele of the PIK3R1 gene (in a heterozygous system). The authors believe that this case report will draw attention to detecting the clinical features of SHORT syndrome, which allows for adequate diagnosis and treatment.
REFERENCES (21)
1.
Gorlin RJ, Cervenkaj, Moller K, et al. Rieger anomaly and growth retardation (the S-H-O-R-T syndrome). In: Malformation syndromes, Bergsma D (ed.). Excerpta Medica for the National Foundation-March of Dimes, New York 1975: 46-48.
2.
Sensenbrenner JA, Hussels IE, Levin S. A low birth weight syndrome. Rieger syndrome. In: Malformation syndromes, Bergsma D (ed.). Excerpta Medica for the National Foundation-March of Dimes, New York 1975: 423-426.
3.
Dyment DA, Smith AC, Alcantara D, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet 2013; 93: 158-166.
4.
Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. J Med Genet 1989; 26: 473-475.
5.
Schroeder C, Riess A, Bonin M, et al. PIK3R1 mutations in SHORT syndrome. Clin Genet 2014; 86: 292-294.
6.
Klatka M, Rysz I, Kozyra K, et al. SHORT syndrome in a two-year-old girl – case report. Ital J Pediatr 2017; 43: 44.
7.
Schwingshandl J, Mache CJ, Rath K, et al. SHORT syndrome and insulin resistance. Am J Med Genet 1993; 47: 907-909.
8.
Verge CF, Donaghue KC, Williams PF, et al. Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. Acta Pediat 1994; 83: 786-788.
10.
Bankier A, Keith CG, Temple IK. Absent iris stroma, narrow body build and small facial bones: A new association or variant of SHORT syndrome. Clin Dysmorph 1995; 4: 302-304.
11.
Brodsky MC, Whiteside-Michel J, Merin LM. Rieger anomaly and congenital glaucoma in the SHORT syndrome. Arch Ophthalmol 1996; 114: 1146-1147.
12.
Moog U, Bleeker-Wagemakers EM, Crobach P, et al. Sibs with Axenfeld-Rieger anomaly, hydrocephalus and leptomeningeal calcifications: A new autosomal recessive syndrome. Am J Med Genet 1998; 78: 263-266.
13.
Reardon W, Temple IK. Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. Am J Med Genet Part A 2008; 146A: 1296-1298.
14.
Avila M, Dyment DA, Sagen JV, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clin Genet 2016; 89: 501-506.
15.
Singh A, Arora R, Singh P, et al. Short syndrome-an expanding phenotype. Indian Pediatr 2013; 50: 414-416.
16.
Raygada M, Rennert O. SHORT syndrome. The NORD guide to rare disorders. Lippincott, Williams and Wilkins, Philadelphia 2003: 250.
17.
Chudasama K, Winnay J, Johansson S, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet 2013; 93: 150-157.
18.
Thauvin-Robinet C, Auclair M, Duplomb L, et al. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 2013; 93: 141-149.
19.
Bárcena C, Quesada V, De Sandre-Giovannoli A, et al. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC Med Genet 2014; 15: 51.
20.
Innes AM, Dyment DA. SHORT Syndrome. GeneReviews®, Adam MP, Ardinger HH, Pagon RA, et al. (eds.). University of Washington, Seattle 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/b....
21.
Palczewska I, Niedźwiecka ZE. Growth curve on growth percentile chart for Warsaw boys. Warszawa 1999.
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