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Clinical Diagnostic Criteria for Pallister-Hall Syndrome
Index case:
Both of the following findings must be present in at least one person in a family (index case):
- Hypothalamic hamartoma characterized on magnetic resonance imaging (MRI) as a non-enhancing, midline hypothalamic mass that is isointense to gray matter on all pulse sequences, or histologic confirmation of a hypothalamic hamartoma*.
- Central polydactyly, most commonly including skeletal polysyndactyly of the third or fourth digit.
First degree relatives of an index case:
Both of the following must be present in the relative:
- Either finding A1 or A2 alone**.
- Inheritance of A1 or A2 in an autosomal dominant pattern or in a manner consistent with gonadal mosaicism.
* |
The use of histologic findings in these criteria should
NOT be construed to be a recommendation to perform a biopsy
or resection of hypothalamic hamartomas. |
** |
After confirmation of the diagnosis in
an index case, postaxial
polydactyly may be substituted for central polydactyly. |
These criteria are cited from the report published in the American
Journal of Medical Genetics 65:76-81 (1996). [Entrez]
Comments, suggestions and problems to
bioinformatics@nhgri.nih.gov
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