Recommended Clinical Evaluations for Persons who may have Pallister-Hall
Syndrome and their Parents
Evaluation of persons possibly affected with Pallister-Hall
syndrome:
- Detailed medical and family history and physical examination.
- Unenhanced cranial MRI examination with addition of gadolinium contrast if a
mass is detected on the unenhanced scan.
- Full skeletal survey to detect generalized skeletal dysplasia.
- Giemsa-banded karyotype of at least 600 band resolution if the index case
has multiple congenital anomalies.
Other studies to consider if clinical need exists or if the diagnosis seems probable:
- Endocrinology evaluation.
- Assay for cholesterol synthetic defects.
- Indirect laryngoscopy.
- Renal ultrasonography.
Evaluation of apparently unaffected parents:
- Detailed medical and family history and physical examination.
- Unenhanced cranial MRI examination with addition of gadolinium contrast if a
mass is detected on the unenhanced scan.
- AP radiographs of hands and feet.
These guidelines are cited from the report published in the American Journal of Medical Genetics 65:76-81 (1996). [Entrez]
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