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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.
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]
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