Mira Hallak, Baraa Emran, Fathi Milhem, Abdalfatah Badran, Ajwad Mallak, Orabi Hajjeh, Noor Nabresi
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Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.
Anophthalmia is a rare congenital defect where no ocular tissue is seen, and it involves 1 out of 10 000 to 20 000 live births. It is largely part of syndromes and consists of genetic, environmental origins, or multifactorial causes. We present a case of a neonate with bilateral anophthalmia, ambiguous external genitalia, microcephaly, and renal ectopy, suggesting a syndromic etiology. Despite receiving multidisciplinary care, the patient unfortunately succumbed to complications, including refractory respiratory distress and seizures. Early diagnosis relies on timely imaging and confirmation, with management guided by appropriate genetic testing, an approach well illustrated by this case. Anophthalmia presents medical and psychosocial challenges that require a coordinated, multidisciplinary approach.
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.