SHORT syndrome in a two-year-old girl - case report

doi:10.1186/s13052-017-0362-z

Review

. 2017 May 4;43(1):44.

doi: 10.1186/s13052-017-0362-z.

SHORT syndrome in a two-year-old girl - case report

Maria Klatka¹, Izabela Rysz², Katarzyna Kozyra¹, Agnieszka Polak³, Witold Kołłątaj¹

Affiliations

¹ Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland.
² Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland. izus1110@interia.pl.
³ Department of Endocrinology, Medical University of Lublin, Lublin, Poland.

PMID: 28472977
PMCID: PMC5418728
DOI: 10.1186/s13052-017-0362-z

Review

SHORT syndrome in a two-year-old girl - case report

Maria Klatka et al. Ital J Pediatr. 2017.

. 2017 May 4;43(1):44.

doi: 10.1186/s13052-017-0362-z.

Authors

Maria Klatka¹, Izabela Rysz², Katarzyna Kozyra¹, Agnieszka Polak³, Witold Kołłątaj¹

Affiliations

¹ Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland.
² Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland. izus1110@interia.pl.
³ Department of Endocrinology, Medical University of Lublin, Lublin, Poland.

PMID: 28472977
PMCID: PMC5418728
DOI: 10.1186/s13052-017-0362-z

Abstract

Background: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.

Case presentation: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.

Conclusions: The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

Keywords: Congenital defects; Genetic disease; Rare disease; Short stature.

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Figures

**Fig. 1**
Dysmorphic features (triangular-shaped face with prominent forehead and deeply-set eyes)

**Fig. 2**
Dysmorphic features and body silhouette - front view

**Fig. 3**
Lipodystrophy at the lumbar region

**Fig. 4**
Lipodystrophy around the elbow region

See this image and copyright information in PMC

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Sun L, Zhang Q, Li Q, Tang Y, Wang Y, Li X, Li N, Wang J, Wang X. Sun L, et al. BMC Med Genet. 2020 Oct 31;21(1):215. doi: 10.1186/s12881-020-01146-3. BMC Med Genet. 2020. PMID: 33129256 Free PMC article.

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References

1. Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013;93(1):158–66. doi: 10.1016/j.ajhg.2013.06.005. - DOI - PMC - PubMed
1. Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. J Med Genet. 1989;26:473–5. doi: 10.1136/jmg.26.7.473. - DOI - PMC - PubMed
1. Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014;86:292–4. doi: 10.1111/cge.12263. - DOI - PubMed
1. Orphanet. The portal for rare diseases and orphan drug. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=28....
1. Singh A, Arora R, Singh P, Kapoor S. Short syndrome-anexpanding phenotype. Indian Pediatr. 2013;50:414–6. doi: 10.1007/s13312-013-0099-8. - DOI - PubMed

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[1] Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013;93(1):158–66. doi: 10.1016/j.ajhg.2013.06.005. - DOI - PMC - PubMed

[2] Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013;93(1):158–66. doi: 10.1016/j.ajhg.2013.06.005. - DOI - PMC - PubMed

[3] Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. J Med Genet. 1989;26:473–5. doi: 10.1136/jmg.26.7.473. - DOI - PMC - PubMed

[4] Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. J Med Genet. 1989;26:473–5. doi: 10.1136/jmg.26.7.473. - DOI - PMC - PubMed

[5] Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014;86:292–4. doi: 10.1111/cge.12263. - DOI - PubMed

[6] Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014;86:292–4. doi: 10.1111/cge.12263. - DOI - PubMed

[7] Orphanet. The portal for rare diseases and orphan drug. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=28....

[8] Orphanet. The portal for rare diseases and orphan drug. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=28....

[9] Singh A, Arora R, Singh P, Kapoor S. Short syndrome-anexpanding phenotype. Indian Pediatr. 2013;50:414–6. doi: 10.1007/s13312-013-0099-8. - DOI - PubMed

[10] Singh A, Arora R, Singh P, Kapoor S. Short syndrome-anexpanding phenotype. Indian Pediatr. 2013;50:414–6. doi: 10.1007/s13312-013-0099-8. - DOI - PubMed

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SHORT syndrome in a two-year-old girl - case report

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SHORT syndrome in a two-year-old girl - case report

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