scholarly journals SHORT Syndrome : An End to the Diagnostic Odyssey

2021 ◽  
Vol 27 (2) ◽  
pp. 23-27
Author(s):  
Siti Aishah Abdul Wahab ◽  
Muzhirah Aisha Md Haniffa ◽  
Yusnita Yakob ◽  
Ong Peitee Winnie ◽  
Gaik Siew Ch'ng ◽  
...  
Keyword(s):  
Short Stature ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Cellular Growth ◽  
Normal Vaginal Delivery ◽  
Heterozygous Mutation ◽  
Genetic Condition ◽  
Intrauterine Growth ◽  
Hands And Feet ◽  
Short Syndrome

SHORT Syndrome is a rare genetic condition with less than 50 cases reported worldwide. Its name is an acronym, represented by Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly and Teething delay. Other associated features include intrauterine growth restriction, lipodystrophy, delayed bone age and progeroid appearance. Cognitive function is usually preserved. Our patient was a 7-year-old-boy, referred at 9 months old forsex chromosome mosaicism detected on his karyotype analysis. He was born term via normal vaginal delivery with a birth weight of 2.05 kg and good Apgar score. Antenatally, mother was diagnosed with diabetes mellitus not requiring insulin. From 7 months gestation, serial scans showed symmetrical intrauterine growth restriction (IUGR). Examination at birth revealed a baby small for age, with prominent ears and micrognathia. During his subsequent clinic visits, he manifested Russell-Silver-like phenotype; failure to thrive, broad forehead and triangular facies, although additional features of wrinkled skin over his hands and feet, deep set eyes, groove over his chin and large ears were also seen. Genetic studies for Russell-Silver Syndrome (RSS) and chromosomal microarray testing which was done subsequently, were both normal. His genetic condition remained elusive for many years. A clinical diagnosis of SHORT Syndrome was finally considered. Polymerase Chain Reaction (PCR) and direct sequencing method was used to analyse the targeted gene at Institute for Medical Research (IMR), Kuala Lumpur. A heterozygous mutation was detected at c.1945C>T in exon 15 of PIK3R1 gene; which impairs cellular growth and proliferation. This case report discusses the differential diagnosis of a dysmorphic child with short stature with RSS -like phenotype.

scholarly journals A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Liying Sun ◽  
Qianwen Zhang ◽  
Qun Li ◽  
Yijun Tang ◽  
Yirou Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Thyroid Disease ◽  
Nonsense Mutation ◽  
Intrauterine Growth Restriction ◽  
De Novo ◽  
Protein Translation ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Short Syndrome

Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. Case presentation The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). Conclusions This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome.

scholarly journals A Novel Variant inCDKN1CIs Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

2014 ◽  
Vol 99 (10) ◽  
pp. E2117-E2122 ◽  
Author(s):  
Sarah L. Kerns ◽  
Jaime Guevara-Aguirre ◽  
Shayne Andrew ◽  
Juan Geng ◽  
Carolina Guevara ◽  
...  
Keyword(s):  
Short Stature ◽  
Intrauterine Growth Restriction ◽  
Early Adulthood ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Onset Diabetes ◽  
Novel Variant

Pathological features of the sequence in pregnant women with delayed fetal growth

2019 ◽  
pp. 50-54
Author(s):  
V.O. Golyanovskiy ◽  
◽  
Ye.O. Didyk ◽  
Keyword(s):  
Pregnant Women ◽  
Intrauterine Growth Restriction ◽  
Normal Development ◽  
Intrauterine Infection ◽  
Normal Pregnancy ◽  
Growth Restriction ◽  
Control Group ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Infection And Inflammation

Pregnant women with intrauterine growth restriction (IUGR) have an increased risk of adverse perinatal and long-term complications compared with the birth of children with normal body weight. Thus, IUGR is one of the main challenges for the global health system, especially in poor and developing countries. Morpho-functional studies of the placentas help in determining the causes of IUGR, and therefore, timely prevent complications in pregnant women with IUGR. The objective: The purpose of this study is to investigate various morphometric and pathomorphological changes in the placenta, including inflammatory, in cases of IUGR, and to establish a correlation of these results with the etiology and complications for the fetus. Materials and methods. In the current study, 54 placentas of the fetuses with IUGR (the main group) were compared with 50 placentas of the fetuses with normal development (control group). The criteria for the inclusion of IUGR were gestational age more than 30 weeks and all fetuses with a weight less than 10th percentile for this period of pregnancy. The placenta material was studied pathomorphologically with laboratory screening for infection and inflammation. Similarly, the results were determined for placentas of the fetuses with normal development compared to placentas with IUGR. Results. The placenta study showed the presence of calcification in the case of IUGR, as well as in the case of prolonged pregnancy. However, calcification of the placenta in the case of IUGR was more progressive compared with placenta in the normal pregnancy. In addition, the presence of intrauterine infection and inflammation was observed, which could also lead to an adverse outcome for the further progression of pregnancy with IUGR. Conclusion. A comparative macro- and microscopic pathomorphological study of the placentas in the two groups has shown a significant increase in the pathological changes in all the anatomical structures of the fetuses with IUGR. Key words: Intrauterine growth restriction (IUGR), fetal weight, pathomorphological changes of the placenta.

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