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J Med Genet. 1998 January; 35(1): 70–71.
PMCID: PMC1051192

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.


We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that these syndromes are the variable expression of a single autosomal recessive disorder.

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Selected References

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  • Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? Am J Med Genet. 1993 Oct 1;47(5):679–682. [PubMed]
  • Holmes LB, Schepens CL. Syndrome of ocular and facial anomalies, telecanthus, and deafness. J Pediatr. 1972 Sep;81(3):552–555. [PubMed]
  • Gripp KW, Donnai D, Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. Am J Med Genet. 1997 Feb 11;68(4):441–444. [PubMed]
  • Schowalter DB, Pagon RA, Kalina RE, McDonald R. Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. Am J Med Genet. 1997 Mar 3;69(1):45–44. [PubMed]

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