A case of combined 21 ‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

ConclusionAlthough these two disorders exhibit different modes of inheritance and their co ‐morbidity is extremely rare, we encountered one male patient who suffered from both 21‐OHD and CS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Abstract OBJECTIVE: To examine the performance of the routine 11-13 weeks scan in detecting fetal non-chromosomal abnormalities. METHODS: This was a retrospective study of prospectively collected data from 100,997 singleton pregnancies attending for a routine ultrasound examination for fetal anatomy, according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71,754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormalities was based on the results of postnatal examination in the case of livebirths and on the ...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
CONCLUSIONS: We were unable to demonstrate a relationship between maternal serum folate in the first trimester and birth defects. Potential confounding factors may have influenced our results. PMID: 30318493 [PubMed - as supplied by publisher]
Source: Journal of Epidemiology - Category: Epidemiology Tags: J Epidemiol Source Type: research
Publication date: Available online 3 October 2017Source: Journal of Oral Biology and Craniofacial ResearchAuthor(s): Akash Kasatwar, Rajiv Borle, Nitin Bhola, Rajanikanth K, G.S.V. Prasad, Anendd JadhavAbstractBackgroundCleft lip and palate is one of the most common congenital craniofacial deformities seen in children. Various congenital anomalies are reported in the literature to be associated with cleft lip and palate. Cardiac anomalies are one of the most common congenital disorders associated in cleft lip and palate patientsIt includes Cyanotic and acyanotic cardiac diseases likel fallot’s tetralogy, transpositio...
Source: Journal of Oral Biology and Craniofacial Research - Category: Dentistry Source Type: research
Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease. Mol Med Rep. 2018 Mar 14;: Authors: Guo B, Xiao J, Li L, Wang S, Wang L, Liu S Abstract Congenital heart disease (CHD) seriously threatens fetal health. Therefore, prenatal examination to detect deformity is extremely important. The present study aimed to investigate the clinical application value of prenatal ultrasonography combined with molecular biology methods in the diagnosis of fetal CHD. A total of 1,000 pregnant women who had received fetal ultras...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Publication date: Available online 3 October 2017 Source:Journal of Oral Biology and Craniofacial Research Author(s): Akash Kasatwar, Rajiv Borle, Nitin Bhola, Rajanikanth K, G.S.V. Prasad, Anendd Jadhav Background Cleft lip and palate is one of the most common congenital craniofacial deformities seen in children. Various congenital anomalies are reported in the literature to be associated with cleft lip and palate. Cardiac anomalies are one of the most common congenital disorders associated in cleft lip and palate patientsIt includes Cyanotic and acyanotic cardiac diseases likel fallot’s tetralogy, transposition of...
Source: Journal of Oral Biology and Craniofacial Research - Category: Dentistry Source Type: research
Publication date: Available online 2 May 2016 Source:Reproductive Toxicology Author(s): Marlena S. Fejzo, Kimber R.N. MacGibbon, Patrick M. Mullin This is an analysis of fetal outcome in pregnancies exposed to ondansetron to treat Hyperemesis Gravidarum (HG). In this retrospective cohort study, U.S. data on outcome were collected on 1070 pregnancies exposed to ondansetron and compared to outcomes in two control groups: 771 pregnancies in women with a history of HG with no ondansetron exposure and 1555 pregnancies with neither a history of HG nor ondansetron exposure. Ventricular septal defects were reported in 2/952 o...
Source: Reproductive Toxicology - Category: Toxicology Source Type: research
CONCLUSION: The prognosis of early onset oligohydramnios is poor. Main determinant is gestational week at the time of the diagnosis. PMID: 26152010 [PubMed - indexed for MEDLINE]
Source: Clinical and Experimental Obstetrics and Gynecology - Category: OBGYN Tags: Clin Exp Obstet Gynecol Source Type: research
Abstract Exposures to particulate matter with diameter of 2.5µm or less (PM2.5) may influence risk of birth defects. We estimated associations between maternal exposure to prenatal traffic-related air pollution and risk of cardiac, orofacial, and neural tube defects among Massachusetts births conceived 2001 through 2008. Our analyses included 2729 cardiac, 255 neural tube, and 729 orofacial defects. We used satellite remote sensing, meteorological and land use data to assess PM2.5 and traffic-related exposures (distance to roads and traffic density) at geocoded birth addresses. We calculated adjusted odds ra...
Source: Environmental Research - Category: Environmental Health Authors: Tags: Environ Res Source Type: research
In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. PMID: 26578241 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Abstract Pseudoisodicentric or asymmetrical dicentric chromosomes 18 are rare findings in clinical cytogenetics. So far, only 8 patients with breakpoints in 18q have been reported and in none of them breakpoints were narrowed down to the molecular level. Here, we describe a 17 months old girl with a perimembranous ventricular septal defect, cleft palate, and minor dysmorphism including hypertelorism, flat nose, frontal bossing and low set ears as well as mosaicism for a cell line with a pseudoisodicentric chromosome 18q and a second cell line with a terminal deletion of 11 Mb in 18q22.2->qter. SNP-array investi...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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