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 patients	Present in proband
Growth parameters
High birth weight	9
Microcephaly	50	+
Short stature	32
Overweight (BMI > 25)	28
DD/ID	100	+
Heart defect	41	+
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 infections	26
Hearing deficit	23
Gastroesophageal reflux	19
Epilepsy	36	+
Anomalies on brain imaging	58
Musculoskeletal anomalies (including joint hypermobility, scoliosis, and club foot)	25	+
Teeth anomalies	<10%	+
Hyperelastic skin	0	+