Fraser Syndrome With Megalencephaly: A Rare Association

Manasi Gupta, Kalyan Chakravarthy Konda, Jayashree Purkayastha, Edward Lewis Leslie

Research output: Contribution to journalArticlepeer-review

Abstract

An outborn term neonate was referred at 12 h of life with multiple congenital anomalies. A baby was born out of consanguineous marriage to a mother with 2 previous abortions. Clinical examination showed features such as bilateral cryptophthalmos, syndactyly involving all limbs, and clitoromegaly suggestive of Fraser syndrome. Ultrasound of the abdomen showed unilateral renal hypoplasia. Echocardiography showed ostium secundum atrial septal defect, small ventricular septal defect, and patent ductus arteriosus. Magnetic resonance imaging of the brain revealed megalencephaly with polygyria. Further evaluation and surgical treatment of cryptophthalmos were advised but could not be done because of socioeconomic constraint, and the neonate was discharged and lost to follow-up. The occurrence of cerebral malformations in Fraser syndrome is highly variable and not very well described in the literature. To the best of our knowledge, association of megalencephaly with this syndrome is being reported for the first time. We also intend to educate the physicians about the antenatal clues associated with this rare syndrome, which could promote antenatal diagnosis and thereby modify the outcome.

Original languageEnglish
JournalJournal of Neonatology
DOIs
Publication statusAccepted/In press - 2021

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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