A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.

A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.

Genetic red flags: clues to thinking genetically in primary care practice.

This article presents an approach to "thinking genetically" in primary care. Busy practitioners often lack the time to consider thoroughly whether their patients have an underlying genetic diagnosis. To assist the primary care clinician, a working group of the Genetics in Primary Care Faculty Development Initiative developed a simple mnemonic, Family GENES, that alerts the clinician to consider genetic causes in the differential diagnosis. In addition to family history, the red flags include Groups of anomalies, Early or Extreme presentations of common diseases, Neurodevelopmental or Neurodegenerative conditions, Exceptional or unusual pathology, and Surprising laboratory values. This article discusses the components of the mnemonic, provides examples, and gives guidelines to appropriate actions once the possibility of a genetic diagnosis has been raised.

Gaps in pediatric clinician communication and opportunities for improvement.

Teamwork and good communication are central to the provision of high-quality care. A standardized focus-group protocol was used. Analysis assessed emergent themes of patient safety-related effective and problematic clinician communication. Sixty-three focus groups were conducted with clinicians from five Chicago Pediatric Patient Safety Consortium hospitals. Effective and problematic clinician-to-clinician communication themes were described in all focus groups and at each participating hospital. Problematic communication contexts included the communication process for orders, consultations, acuity assessment, management of surgical and medical patients, and the discharge process. Organizational policies and systems leading to patient safety risk included a lack of clear responsibilities and expectations for clinicians and for clinical communication, as well as a lack of a clear chain of responsibility for communication when hierarchical communication barriers affected safe patient care. Results of this investigation highlighted gaps in pediatric clinician communication and opportunities for improvement.