scholarly journals 11p15.4 Microdeletion Associates with Hemihypertrophy

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Surasak Puvabanditsin ◽  
Mehrin Sadiq ◽  
Marianne Jacob ◽  
Maaz Jalil ◽  
Kenya Cabrera ◽  
...  
Keyword(s):  
Intrauterine Growth Retardation ◽  
Clinical Findings ◽  
Interstitial Deletion ◽  
Whole Genome ◽  
Chromosome 11 ◽  
Genetic Condition ◽  
Snp Microarray ◽  
Intrauterine Growth ◽  
Small Hands ◽  
Hands And Feet

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

Image (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies) Syndrome (Mim 300290)

2012 ◽  
pp. 398-399
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Intrauterine Growth ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Chapter 92 covers IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome (MIM 300290), including major clinical findings, radiographic features, and differential diagnoses.

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 DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

2013 ◽  
Vol 16 (2) ◽  
pp. 67-72 ◽  
Author(s):  
A. Sireteanu ◽  
M. Voloşciuc ◽  
M. Grămescu ◽  
Ev. Gorduza ◽  
C. Vulpoi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Rearrangements ◽  
Snp Array ◽  
Copy Number Variations ◽  
Clinical Findings ◽  
Genome Wide ◽  
Anterior Trunk ◽  
Small Hands ◽  
Hands And Feet

ABSTRACT We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient’s clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies

scholarly journals Russel — Silver syndrome a 7-month-old child: case report

2021 ◽  
Vol 4 (1) ◽  
pp. 103-105
Author(s):  
N.R. Khafizova ◽  
◽  
D.R. Merzlyakova ◽  
Yu.F. Safina ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Small Body ◽  
Clinical Signs ◽  
Hereditary Disease ◽  
The Body ◽  
Genetic Condition ◽  
Intrauterine Growth ◽  
Silver Syndrome

Russel – Silver syndrome (RSS) is a hereditary disease manifesting with intrauterine growth retardation, dwarfism, and other stigmas of embryopathy. We describe this rare genetic condition in a 7-month-old baby. The changes in physical condition and neurological status, clinical signs, laboratory tests, and management strategy are addressed. A genetic condition was suggested through an arrested development and stigmas of embryopathy only at the age of 7 months. At the age of 5 months, hydrocephaly was suspected due to asymmetrical proportions of the body (the relatively large size of head compared to a small body). However, neurosonography ruled out this diagnosis. Genetic testing for microsatellite loci on chromosome 7, which identified abnormal methylation of H19 gene verified the final diagnosis. KEYWORDS: Russel – Silver syndrome, child, intrauterine growth retardation, pseudohydrocephalus, dwarfism, genetic counseling. FOR CITATION: Khafizova N.R., Merzlyakova D.R., Safina Yu.F. Russel – Silver syndrome a 7-month-old child: case report. Russian Journal of Woman and Child Health. 2021;4(1):103–105. DOI: 10.32364/2618-8430-2021-4-1-103-105.

Coronavirus diseases and pregnancy: COVID-19,SARS, and MERS

2020 ◽  
pp. 276-289
Author(s):  
Mobina Fathi ◽  
Kimia Vakili ◽  
Niloofar Deravi
Keyword(s):  
Pregnant Women ◽  
Intrauterine Growth Retardation ◽  
Negative Impact ◽  
World Health ◽  
Wuhan City ◽  
Intrauterine Growth ◽  
Exponential Increase ◽  
The World ◽  
Health Organization ◽  
Respiratory Droplets

Around the end of December 2019, a new beta-coronavirus from Wuhan City, Hubei Province, China began to spread rapidly. The new virus, called SARS-CoV-2, which could be transmitted through respiratory droplets, had a range of mild to severe symptoms, from simple cold in some cases to death in others. The disease caused by SARS-CoV-2 was named COVID-19 by WHO and has so far killed more people than SARS and MERS. Following the widespread global outbreak of COVID-19, with more than 132758 confirmed cases and 4955 deaths worldwide, the World Health Organization declared COVID-19 a pandemic disease in January 2020. Earlier studies on viral pneumonia epidemics has shown that pregnant women are at greater risk than others. During pregnancy, the pregnant woman is more prone to infectious diseases. Research on both SARS-CoV and MERS-CoV, which are pathologically similar to SARS-CoV-2, has shown that being infected with these viruses during pregnancy increases the risk of maternal death, stillbirth, intrauterine growth retardation and, preterm delivery. With the exponential increase in cases of COVID-19 throughout the world, there is a need to understand the effects of SARS-CoV-2 on the health of pregnant women, through extrapolation of earlier studies that have been conducted on pregnant women infected with SARS-CoV, and MERS-CoV. There is an urgent need to understand the chance of vertical transmission of SARS-CoV-2 from mother to fetus and the possibility of the virus crossing the placental barrier. Additionally, since some viral diseases and antiviral drugs may have a negative impact on the mother and fetus, in which case, pregnant women need special attention for the prevention, diagnosis, and treatment of COVID-19.

Imbalance in the system L-arginin-NO in pathogenesis of obstetric complications and intrauterine growth retardation (Literature review)

2016 ◽  
pp. 43-47
Author(s):  
O.V. Basystyi ◽  
Keyword(s):  
Nitric Oxide ◽  
Literature Review ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Obstetric Complications ◽  
Pathogenetic Role ◽  
Intrauterine Growth ◽  
System L ◽  
Nitric Oxide Deficiency

The data of domestic and foreign literature on etiology, pathogenesis and intrauterine growth retardation diagnosis are presented in the paper. It highlights pathogenetic role of nitric oxide deficiency in case of obstetric complications and intrauterine growth retardation. Key words: intrauterine growth retardation (IUGR), system L-arginin–NO, obstetric complications.

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