Short Stature Syndromes: Case Series from India.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-04-14 eCollection Date: 2022-12-01 DOI:10.1055/s-0041-1726037

Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, Mohd Shariq, Devika D Naorem, B C Gowtham, Anupriya Kaur, Devi Dayal

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Abstract

Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver-Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance-Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.

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身材矮小综合症：印度病例系列。

导致身材矮小的综合征包括努南综合征（NS）、威廉姆斯综合征和西尔弗-鲁塞尔综合征（SRS）。SRS 是一种具有遗传异质性的原始矮小症。SRS 儿童表现为产前生长迟缓、新生儿低血糖、喂养困难、身体不对称，部分病例伴有脊柱侧弯和心脏缺陷。发病率高达十万分之一。已发现单亲裂殖、甲基化异常和某些基因的变异是这种表型的基础。生长激素疗法已被用于改善这些患者的身高增长。NS具有遗传异质性，大多数患者表现为身材矮小，伴有或不伴有心脏缺陷。多种基因变异（大多为常染色体显性遗传）导致了这种表型。随着下一代测序技术的普及，在不同种族人群中发现了越来越多导致身材矮小的遗传疾病，如歌舞伎综合征和南斯-霍兰综合征。在此，我们将介绍过去 5 年中发现的一些 SRS 病例和其他畸形综合征病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.