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

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.

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

Cytogenetic and Genome Research ◽

10.1159/000445273 ◽

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.

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

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33766 ◽

2010 ◽

Vol 155 (1) ◽

pp. 203-206 ◽

Cited By ~ 5

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

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Palivizumab for prophylaxis of respiratory syncytial virus infections in preterm neonates

Klinische Pädiatrie ◽

10.1055/s-0043-116334 ◽

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.

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Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2018.08.031 ◽

2018 ◽

Vol 57 (5) ◽

pp. 765-768 ◽

Cited By ~ 1

Author(s):

Chih-Ping Chen ◽

Shu-Yuan Chang ◽

Shuan-Pei Lin ◽

Schu-Rern Chern ◽

Peih-Shan Wu ◽

...

Keyword(s):

Developmental Delay ◽

Comparative Genomic Hybridization ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Array Comparative Genomic Hybridization ◽

Heart Defects ◽

Growth Restriction ◽

Comparative Genomic ◽

Genomic Hybridization

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

Kidney & Blood Pressure Research ◽

10.1159/000504224 ◽

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.

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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Case Reports in Genetics ◽

10.1155/2016/3056053 ◽

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.

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