Form Of Congenital Malformation Research Articles

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations. Here, I hypothesize NAD+ deficiency as a pleiotropic mechanism for multiple malformation conditions, including limb‐body wall complex (LBWC), pentalogy of Cantrell (POC), omphalocele‐exstrophy‐imperforate anus‐spinal defects (OEIS) complex, vertebral‐anal‐cardiac‐tracheoesophageal fistula‐renal‐limb (VACTERL) association (hereafter VACTERL), oculoauriculovertebral spectrum (OAVS), Mullerian duct aplasia‐renal anomalies‐cervicothoracic somite dysplasia (MURCS), sirenomelia, and urorectal septum malformation (URSM) sequence, along with miscarriages and other forms of congenital malformation. The term Congenital NAD Deficiency Disorder (CNDD) could be considered for patients with these malformations; however, it is important to emphasize there have been no confirmatory experimental studies in humans to prove this hypothesis. In addition, these multiple malformation conditions should not be considered individual entities for the following reasons: First, there is no uniform consensus of clinical diagnostic criteria and all of them fail to capture cases with partial expression of the phenotype. Second, reports of individuals consistently show overlapping features with other reported conditions in this group. Finally, what is currently defined as VACTERL is what I would refer to as a default label when more striking features such as body wall defects, caudal dysgenesis, or cloacal exstrophy are not present.

Hemimegalencephaly: Seizure outcome in an infant after hemispherectomy

Isolated hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, developmental delay, contralateral hemiparesis, and hemianopia. We report a case of an 18-month-old girl who presented first with focal seizures at tenth day of life, with no other physical or behavioral abnormality. Initial EEG showed excessive sharp EEG transients more over the right hemisphere; repeated EEG showed spikes, polyspikes, sharps, and slow wave discharges predominately over the right hemisphere. MRI of the brain showed asymmetric enlargement of the right cerebral hemisphere, suggestive of hemimegalencephaly. Initial treatment with antiepileptic drugs (AEDs) was successful in controlling her seizures, but later on the seizures became intractable even on polytherapy of AEDs; finally, functional hemispherectomy was performed and she became seizure free. Identification of this and similar cases of iHME can help us to better understand this disorder and eventually to provide better treatment options for it.

Pattern and outcome of gross congenital malformations at birth amongst newborns admitted to a tertiary hospital in northern Nigeria

Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide.Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries admitted to the special care baby unit (SCBU) of the Usmanu Danfodiyo University Teaching Hospital, Sokoto.Methods: All newborns with any form of congenital malformation (s) admitted to the SCBU were recruited for the study for a 2-year period from January, 2011 to December, 2012. For ease of identification and classification, organ systems were used to classify malformations while, the recognized syndromes were classified under others.Results: The total deliveries for the study period were 6,578 while, admission to the SCBU was1165. Twenty four (2.1%, prevalence) of the neonates admitted to SCBU had congenital malformation(s); males were 15(62.5%) and females were 9(37.5%) with male to female ratio of 1.7:1. 6(25%) of the babies were delivered outside while, 18(75%) were delivered in our facility labour room. Most of the observed malformations wereseen in the central nervous system and the gastro intestinal tract.Conclusion: There is the need for early diagnosis and treatment toimprove the chance of survival for malformed babies. The prevalenceof 2.1% in our study is comparable to some previous studies however, a community based/multi-centre studies may illuminate a true prevalence.Key words: congenital malformations, newborns

Is congenital malformation a risk factor for caries development in Swedish adolescents?

Objective. The aim of this study was to investigate whether various forms of congenital malformations are risk factors for approximal caries development in Swedish adolescents. Materials and methods. This longitudinal register-based cohort study included all adolescents (n = 18 142) of 13 years of age who resided in the county of Stockholm, Sweden, in 2000. The cohort was followed until individuals were 19 years of age. Dental caries (decayed, missing and filled teeth/surfaces (DMFT/S)) were collected from the Public Health Care Administration in Stockholm. Data concerning pre- and perinatal factors and parental socio-demographic determinants were collected from Swedish National Registers. Results. In a logistic regression analysis, neither congenital malformation nor any sub-group of congenital malformation registered at birth were significantly associated with an enhanced risk of approximal caries increment in adolescents between 13–19 years of age. The final multivariate logistic regression model, adjusted for possible maternal and family socio-demographic confounders, showed that congenital malformation of the ‘circulatory system' was significantly associated with a decreased risk of approximal caries increment, between 13–19 years of age (OR = 0.33; 95% CI = 0.12–0.88). Conclusions. Congenital malformation should not be considered as a risk factor for approximal caries development in Swedish adolescents today. Noticeably, adolescents with congenital heart diseases exhibited less risk of developing approximal caries, which was probably related to prevention programs allocated to these children in Sweden.

Diaphragmatic Mesothelial Cyst in a Child With Fanconi Aplastic Anemia

Fanconi aplastic anemia (FAA), an inherited form of bone marrow failure syndrome, is characterized by progressive bone marrow failure and high risk of developing a malignancy. One or more congenital malformations may be detected in at least 90% of the affected individuals. Despite many forms of congenital malformations in FAA, there are no reports of coexisting FAA and diaphragmatic mesothelial cyst. Here, we report a 7-year-old female patient with FAA is associated with diaphragmatic mesothelial cyst.

The Correction of Macrotia-A Case Report

Macrotia is a form of congenital malformation of the auricle. It may affect patients' social activities as well as their self-esteem. A 10-year-old boy suffered from bilateral conchal hypertrophy. He received ear reduction under the diagnosis of macrotia. Resection of the posterior concha wall via a posterior approach and setback otoplasty were performed. The anterior skin of the concha was left intact and its redundancy was corrected by its own viscoelastic property. The result of the operation was pleasing with good aesthetic appearance, bilateral symmetry, and inconspicuous scars.

Annual and seasonal variations in the prevalence of congenital cardiac malformations in live-born infants

SummaryThe annual and seasonal distribution of the prevalence of congenital cardiac malformations was calculated in 664,218 infants born from 1977 to 1984 in Bohemia (population of 6.3 million). All children who died were autopsied and those confirmed as having a malformation of the heart were included in our series. In total, 4,409 infants (6.64/1,000 live-births) were born with a cardiac defect. Annual variations were insignificant. The prevalence rate of cardiac malformations at birth was highest in October and lowest in December, June and July. It was not modified by differences in the birthrate. The peak of the prevalence coincided with the epidemics of influenza in early pregnancy. A nonuniform seasonal variation was found in individual forms of congenital malformations of the heart, indicating their possible etiological heterogeneity.