Erum Ilyas, Muhammad Affan, Razia Iftikhar, Khabab Abbasher Hussien Mohamed Ahmed
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A familial case of VACTERL association with co-occurring sacrococcygeal teratoma: a case report.
Background: VACTERL association is a rare disorder characterized by a non-random co-occurrence of multiple congenital anomalies. Reported incidences of VACTERL are usually sporadic.
Case presentation: Here we present a case of familial VACTERL association in a male infant born full term at 38 weeks of gestation. The infant's maternal aunt also had significant features of VACTERL association but died in the first year of life. Due to the lack of specialized expertise and absence of detailed anomaly scans, the congenital anomalies were not detected prenatally. The baby also had a very rare co-occurrence of sacrococcygeal teratoma.
Conclusion: Skillful personnel and equipment to detect the anomalies in-utero and the use of modern DNA sequencing techniques to detect the possible underlying genetic defects can help us better understand the pathophysiology of various congenital disorders. Early diagnosis is crucial for optimizing management strategies and counselling parents regarding potential outcomes.
期刊介绍：
Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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