Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study.

Program-level clinical remediation in genetic counseling training programs aims to help students who are underperforming gain clinical skills to successfully manage clinical counseling sessions with patients. Student remediation often requires intervention, including discussions with program leadership and/or a formal remediation plan through the program. This study surveyed genetic counseling program leaders to explore the remediation landscape by identifying skills in which students underperformed, program remediation activities to improve skills, and remediation outcomes.

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.

We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating.

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.

We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal.