Case Report

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Table 1

Summary of main features in 91 reported patients with 9q34.3 deletion [1] and in the index patient.

Clinical features% in 91 patientsPresent in proband

Growth parameters
 High birth weight9
 Short stature32
 Overweight (BMI > 25)28
Heart defect41+
Renal anomaly (including vesicoureteral reflux)12
Behavioral/psychiatric problems (including autistic features, attention deficit problems, self-mutilation, aggressive and emotional outbursts/crises, and severe sleep disturbance)54%
Recurrent infections26
Hearing deficit23
Gastroesophageal reflux19
Anomalies on brain imaging58
Musculoskeletal anomalies (including joint hypermobility, scoliosis, and club foot)25+
Teeth anomalies<10%+
Hyperelastic skin0+