HUM-MOLGEN DIAGnostics/Clinical Research


Jeune syndrome (asphyxiating thoracic dystrophy)

Dear Colleague,

We have identified a two-year old boy with mild Jeune syndrome (asphyxiating thoracic dystrophy). He has the typical radiographic and clinical features but is at the mild end of the spectrum of disease. He has not had any respiratory difficulties and is not significantly growth retarded.

In addition, he has low-grade hepatitis with non-specific abnormalities on liver biopsy; this is a well-recognised feature of Jeune syndrome. His renal function is normal but may deteriorate within the next few years. His white cell count is normal.

This boy has developed epilepsy and has very low immunoglobulin levels. These are not recognised associations of Jeune syndrome. Do you have any experience of these complications in this disorder? I would value your comments.

Yours sincerely,

Graeme Suthers.
Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006
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