Geburtshilfe Frauenheilkd 2016; 76 - P46
DOI: 10.1055/s-0036-1583819

Fraser syndrome

J Diari 1, A Gharsa 1, A Achour 1, C Abid 1, D Chelli 1
  • 1Gynecology and obstetrics department A, Maternity Center Rabta, Tunis, Tunisia

Introduction:

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities.

Objective:

To examine the correlation between US examination and fetopathology in the prenatal diagnosis of Fraser syndrome.

Methods:

One case of Fraser syndrome was reported in our fetal unit.

Results:

We report a case of Fraser syndrome diagnosed at 21 weeks gestation by ultrasound. The findings were bilateral renal agenesis leading to oligohydramnios, laryngeal atresia, abnormal hands and microphthalmos. The diagnosis was confirmed after termination of pregnancy by macroscopic examination. We found cryptophtalmos, extensive syndactyly of the fingers and toes, abnormal genitalia and imperforate anus. Autopsy revealed bilateral renal agenesis as well as an absence of ureters.

Discussion:

The Faser syndrome is a rare genetic syndrome with abnormalities of the head, lungs, kidneys, and limbs. Its combines acrofacial and urogenital malformations with or without cryptophtalmos.

The incidence is about 0.043/10000 live-born infants and 1.1/10,000 stillbirths.

Fraser syndrome is a multiple malformation syndrome with a probable autosomal recessive inheritance, since an unusual proportion of infants are born to consanguineous parents. The gene is unknown.

Fraser syndrome has a recurrence risk of 25% among siblings and therefore prenatal diagnosis and counseling the affected families is important. However, in the case of a previously affected sibling the diagnosis can be made even without the above Thomas's criteria being fulfilled.

The diagnosis has been suggested prenatally by the combination of the major and minor characteristics. Cases are diagnosed on the basis of at least two major criteria and one minor criterion or at least four minor criteria.

The major characteristics are cryptophtamos, syndactyly, genital anomalies and sibling with Fraser syndrome.

The minor characteristics are alterations of the nose, the ears, the larynx, oral clefts (cleft lip and/or palate), umbilical hernia, renal agenesis (unilateral or bilateral) and skeletal anomalies.

Conclusion:

The prenatal diagnosis of Fraser syndrome is possible by ultrasound but due to the great variety of possible malformations the diagnosis will remain in doubt in most cases in which no previous child is affected.