A RARE DIFFERENTIAL DIAGNOSIS OF POTTER'S SEQUENCE: FRASER-SYNDROME

H. Ebbecke (1) H.Bosse (1) Th. Christiansen (2) J.P.A. De Jonge (2)

(1) St. Bonifatius-Hospital, Neonatologie, Lingen, Germany; (2) Institut für Pathologie, Nordhom, Germany

BACKGROUND: Potter's sequence is a clinically-pathologic miscellany of different congenital malformations with sporadic incidence. The common primary cause is a failure in fetal kidney function [2].

Fraser-syndrome (cryptophthalmos-syndactyly syndrome) is a extremely rare hereditary defect with autosomal recessive devolution of variable expression. Typical symptoms are cryptophthalmos, renal agenesis, vaginal atresia or cryptorchidism, membranous syndactyly and craniofacial anomalies including laryngeal stenosis or atresia

[1,2,3].

CASE-REPORT: We present a preterm infant (g.a.: 35 weeks) with intrauterine growth retardation but missing prenatal symptoms of Potter's sequence. Post partum findings showed signs of Fraser- Syndrome. The extreme laryngeal stenosis appeared to be an absolute impediment for endotracheal intubation.

DISCUSSION: For genetic counseling in Potter's sequence a secure diagnosis should be elaborated. In contrast to other malformations with consecutive Potter's sequence, Fraser-syndrome has a recurrence risk as high as 25% (normally: 2-7%) [2,3].

[1] GattusoJ, et al. J Med Genet 1987; 24:549-555 The clinical spectrum of the Fraser syndrome

[2] Cornelia 71, et al. (Hrsg.) Appleton and Lange, East Norwalk 1994; 296-302 Neonatology

[3] LurieJW, et al. din Genet 1984; 25:528-532 Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome