Prenatal diagnosis of Fraser syndrome: a matter of life or death?

Giuseppe De Bernardo,Antonino Di Toro,Desiree Sordino,Daniele De Brasi,Maurizio Giordano

doi:10.1186/s13052-015-0195-6

Giuseppe De Bernardo, Antonino Di Toro + Show 3 more

Open Access

https://doi.org/10.1186/s13052-015-0195-6

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Abstract

BackgroundFraser Syndrome is a rare, autosomal recessive syndrome. It’s characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is crucial to get prenatal diagnosis early on in the pregnancy.Case presentationWe are reporting a female infant born by natural birth with 46,XX. She was characterized phenotypically by cryptophthalmos, syndactyly, bilateral microtia and ambiguous genitalia. A prenatal ultrasound didn’t revealed or raised any suspects for the Fraser Syndrome. It only discovered a unilateral kidney agenesis. At birth the infant showed a severe respiratory distress, intubation was attempted but it failed. The baby was transferred to Santobono-Pausilipon III level hospital. A tracheostomy was performed successfully and saved her life. Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior. Genetic test revealed the typical mutations in the gene FREM2 confirming the diagnosis of Fraser Syndrome. In her fourth month, after birth, the infant was subjected to an operation to reconstruct eyelids with a mucous membrane graft. The left renal function was normal. The baby showed a delay in motor milestones for visual impairment. At the 19th month fallow-up, during a magnetic resonance it was revealed: a normal morphologic brain development, a thin presence in the right optic nerve and the visual cortex were developing.ConclusionsThe prenatal diagnosis of Fraser Syndrome is frequently possible. The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome. The health providers must keep in mind that if there are suspects of the Fraser Syndrome during prenatal exams, the infants could have a severe malformation in the respiratory tract.

Highlights

Fraser Syndrome is a rare, autosomal recessive syndrome
The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome
The health providers must keep in mind that if there are suspects of the Fraser Syndrome during prenatal exams, the infants could have a severe malformation in the respiratory tract

Summary

Conclusions

FS is a rare disease characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Nurullah Okumus have described a case of an infant that is death after birth for anoxia [6] They knew that prenatal ultrasound revealed oligohydramnios and renal abnormalities but by itself these signs were not enough to diagnosis the FS. The prenatal ultrasound revealed features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis that are pathognomonic of FS [5, 6] Another important sign was cryptophthalmos it can be revealed during pregnancy. For this reason if there is a suspect of FS during pregnancy, the health care providers must keep in mind that the infant could have a severe malformation in respiratory tract [2, 3, 6]. All authors have read and approved the final version of the manuscript

Background

Findings