Background: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life-threatening conditions.
Aim: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors associated with these anomalies; and their short term outcome.
Subjects And Methods: Children with clinically recognized congenital malformations were recruited consecutively over a 12 month period and socio-demographic, etiologic and other relevant clinical data were obtained. A detailed examination was also performed and abnormalities documented. The data was analyzed using Epi-info version 6 (Atlanta, USA). The Chi-square was used to identify significant differences for categorical variables. Mid-P and Fisher's exact tests were utilized as appropriate. A < 0.05 was considered to be significant.
Results: A total of 46 children with congenital anomalies were seen during the study period, all which were recruited into the study. The hospital based prevalence amongst neonates was 111/1000 neonates. The most common system affected was the digestive system(50.0%) followed by the central nervous system and head and neck anomalies. There was no significant difference in distribution of anomalies amongst the various ethnic groups. About 22% of families were consanguineous, all being first cousins and 8.7% of mothers were greater than 35 years of age. The case fatality rate for congenital malformations was 2.2%, while 60.9% were referred to other hospitals for further care.
Conclusion: The study has demonstrated a wide variety of congenital anomalies in Bida, North-Central Nigeria with the digestive system anomalies being the most frequent. The findings of this study strengthen the need for empowerment of the institution in appropriate management of these disorders.
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http://dx.doi.org/10.4103/amhsr.amhsr_108_13 | DOI Listing |
Sci Rep
January 2025
Department of Nephrology and Rheumatology, Yongchuan Hospital of Chongqing Medical University, Chongqing, 402160, China.
We aimed to evaluate the incidence of residual shunt after patent foramen ovale (PFO) closure and analyze the anatomical features of PFO to determine the risk factors for significant residual shunt after PFO closure. Ninety-two patients who underwent PFO closure at our center between September 2021 and June 2022 were consecutively enrolled. Transthoracic saline contrast echocardiography was performed at 6 and 12 months postoperatively to evaluate the presence of a significant residual shunt.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Northern Beaches Hospital, Frenchs Forest, New South Wales, Australia.
Littré hernia is the rare protrusion of a Meckel's diverticulum (MD) through a hernia sac. We present a rare case of strangulated MD in a woman patient in her 90s, which required a small intestine resection. She presented with 1 day of groin swelling, no features of bowel obstruction and an irreducible hernia on examination.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFJBJS Case Connect
October 2024
Department of Orthopaedics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Case: An 8-year-old girl with NF1 and congenital tibial dysplasia with significant bilateral tibial bowing underwent McFarland procedures. Now age 22 with 14-year follow-up indicating sustained correction and healing of her bilateral limb deformities.
Conclusion: This case illustrates the McFarland procedure provided adequate corrective treatment of this deformity and remains a success at long-term follow-up.
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