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.

• Endocrinology evaluation.

• Assay for cholesterol synthetic defects.

• Indirect laryngoscopy.

• Renal ultrasonography.

• 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.