Introduction:

Fraser syndrome is an autosomal recessive disease, with a frequency of 0.2 / 100,000 live births. Multiple genes have been implicated, so their clinical expression is highly variable.

Case report:

Female patient; she was born with respiratory distress and multiple malformations. Mother was 18 years-old and father 20 years-old. Consanguinity was denied. On physical examination, tachypnea, inspiratory stridor, 68% oxygen saturation, microcephaly, bilateral cryptophthalmos, nasal hypoplasia, umbilical hernia, clitoris hypertrophy, vaginal atresia and partial syndactyly were detected. Echocardiogram: interventricular communication; abdominal ultrasound: presence of mullerian vestiges. CT: absence of eyeballs. Nasofibroscopy: subglottic stenosis. She died at 30 days old.

Conclusions:

Prognosis of patients with Fraser syndrome is bad, so genetic counseling is essential.

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