Year: 2026
Type: article
Study design: Case Report
Abstract: Fraser syndrome is a rare autosomal recessive congenital malformation syndrome characterized by a wide clinical spectrum, including ocular, limb, genital, and visceral anomalies. Diagnosis is suggested by the association of multiple characteristic malformations. We report the case of a newborn admitted to the Neonatology and Neonatal Intensive Care Unit of Mohammed VI University Hospital in Tangier, born to consanguineous parents, who presented with a polymalformative syndrome associating bilateral anophthalmia with ankyloblepharon, syndactyly, genital anomaly, anal imperforation, and low-set ears. Additional ultrasound assessment revealed associated cardiac and genital abnormalities, without major renal involvement. The overall clinical and radiological findings were highly suggestive of Fraser syndrome. This observation highlights the phenotypic heterogeneity of Fraser syndrome and emphasizes the diagnostic value of careful clinical evaluation in the presence of multiple congenital malformations, particularly in a context of consanguinity. Early prenatal suspicion may help optimize perinatal management and parental counseling. Management is multidisciplinary and involves neonatologists, pediatric surgeons, geneticists, and long-term follow-up. Prognosis depends on the type and severity of associated malformations and remains guarded in severe presentations.
Source: Cureus
Institution: Centre Hospitalier Universitaire Mohammed VI
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7154841761