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Table 1 Demographic information, physical features and medical information a

From: Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

Characteristics Patient 1 Patient 2
Demographics   
 Sex M M
 Age (yr; mo) 17;6 19;2
 Age autistic disorder reported by a professional (yr; mo) 0;11 2;11
 Age at referral to an autism center (yr; mo) 3;6 5;9
 Age at WBS diagnosis (yr; mo) 17;6 19;2
Clinical genetic examination and physical features   
 Birth height 45 cm 48 cm
 Birth weight 1,680 g 3,080 g
 Birth head circumference 30 cm 33.5 cm
 Current height 160 cm 161 cm
 Current weight 44.2 kg 47 kg
 Current head circumference 50 cm 53 cm
 Heart defectb Mild PS None
 Infantile hypercalcemia No No
 Kidney abnormalities None None
 Developmental anomalies Bilateral inguinal hernia and ectopic testis Bilateral inguinal hernia and cutaneous cysts
 Facial dysmorphism Typical WBS features Typical WBS features
 Walkingc Unstable Unstable
 Neurological examination Unremarkable Brisk reflexes
  1. aPS pulmonary stenosis, WBS Williams-Beuren syndrome. bFor patient 1, a heart murmur was detected at 3 weeks old, and the diagnosis of mild PS was made by cardiologists; for patient 2, a systolic heart murmur was detected at 1 year old, but there was no heart defect. cPatient 1 had an abnormal gait, needed assistance to maintain balance when standing upright and required hand-holding when walking uphill or downhill; patient 2 also had balance disturbances and an abnormal gait (head forward and bent back like his father and brother).