A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

2017 ◽  
Vol 58 (1) ◽  
pp. 36-38 ◽  
Author(s):  
Keiko Shimojima ◽  
Nobuhiko Okamoto ◽  
Toshiyuki Yamamoto
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Heart Defects ◽  
Multiple Congenital Anomalies

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

2010 ◽  
Vol 155 (1) ◽  
pp. 203-206 ◽  
Author(s):  
Sultan Cingöz ◽  
Iben Bache ◽  
Lise Bjerglund ◽  
Hans-Hilger Ropers ◽  
Niels Tommerup ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Male Patient ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Interstitial Deletion

scholarly journals Palivizumab for prophylaxis of respiratory syncytial virus infections in preterm neonates

2017 ◽  
Vol 229 (05) ◽  
pp. 259-260
Author(s):  
Ludwig Gortner
Keyword(s):  
Respiratory Syncytial Virus ◽  
Congenital Heart Defects ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Heart Defects ◽  
The United States ◽  
Preterm Neonates ◽  
Virus Infections ◽  
Number Of Children ◽  
Syncytial Virus

Recent data indicate that the number of children cared for respiratory syncytial virus (RSV) infections in hospitals is in the range of 50,000 to 100,000 per year in the United States 3. Major risk factors include apart from prematurity specifically below 29 weeks, congenital heart defects, Down syndrome and further congenital anomalies. The American Academy of Pediatrics recommended in 2014 a restriction of Palivizumab prophylaxis to preterm infants of <29 weeks of gestation and those with a high-risk course postnatally and higher gestational ages apart from specific indications resulting from congenital anomalies including congenital heart defects 1.

scholarly journals Congenital Anomalies of the Kidney and Urinary Tract in Children with Congenital Heart Defects

2020 ◽  
Vol 45 (2) ◽  
pp. 307-313
Author(s):  
Dapeng Jiang ◽  
Qi Wang ◽  
Zhengzhou Shi ◽  
Jie Sun
Keyword(s):  
Urinary Tract ◽  
Congenital Heart Defects ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Medical Center ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Number Of Patients ◽  
Significant Difference ◽  
History Of

Background/Aims: To investigate the incidence and clinical characteristics of congenital anomalies of the kidney and urinary tract (CAKUT) in children with congenital heart defects (CHD). Methods: We retrospectively analyzed the clinical data of children with CHD with CAKUT admitted to the Shanghai Children’s Medical Center affiliated with the Shanghai Jiao Tong University School of Medicine between September 2018 and March 2019. Patients underwent routine examinations for liver, kidney, and coagulation function, and urinary tract ultrasonography, and we summarized patients’ clinical manifestations and imaging abnormalities. Results: A total of 1,410 children with CHD were diagnosed and treated in our hospital. The total number of patients with abnormal urogenital systems was 104, and hydronephrosis was the most common abnormality, followed by vesicoureteral reflux and duplication of the kidney and ureter. The overall prevalence of CAKUT was 7.4%. There was no statistically significant difference for maternal age, sex, parity, gestational age, and history of medication during pregnancy between the patients with CAKUT and those without CAKUT. Conclusion: The incidence of CAKUT in our patients with CHD was significantly higher than that in the general population. We recommend urinary ultrasonography as a routine examination for children with CHD for early detection of CAKUT, to avoid missed diagnoses, and to initiate appropriate treatment.

scholarly journals Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Euthymia Vargiami ◽  
Athina Ververi ◽  
Hamda Al-Mutawa ◽  
Georgia Gioula ◽  
Spyridon Gerou ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Dysmorphic Features ◽  
Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

scholarly journals Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

2016 ◽  
Vol 98 (6) ◽  
pp. 1235-1242 ◽  
Author(s):  
Lia Boyle ◽  
Mirjam M.C. Wamelink ◽  
Gajja S. Salomons ◽  
Birthe Roos ◽  
Ana Pop ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects
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