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 sensor...

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Hauptverfasser: Devriendt, K, Standaert, L, Van Hole, C, Devlieger, H, Fryns, J P
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1998
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051192/
https://ncbi.nlm.nih.gov/pubmed/9475100
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