Table 4 Medical problems in 37 patients with 22q11.2DupS compared to 101 patients with 22q11.2DS

Cardiac

Clinical evaluation: n = 37

24 % (9/37)

VSD, PVS, PDA, ASD/PFO, TOF, HLHS

Clinical evaluation by echo: n = 99; 82 % abnormal

Echo: n = 25

Endocrine

Endocrine evaluation: n = 31

Hypothyroidism 19 % (6/31) Hypocalcemia 10 % (3/31)

Endocrine evaluation: n = 98; 70 % abnormal (including 16 % with hypothyroidism and 38 % with hypocalcemia)

Hearing loss

Audiogram: n = 37

16 % (6/37)

• Conductive n = 3

• Mixed n = 2

• Sensorineural n = 1

Mild loss in 4/5; Mild to moderate loss in 1/5 with Mixed HL

Audiogram: n = 101; 34 % abnormal (including 26 % with Conductive HL, 3 % with sensorineural; 2 % with HL not specified)

Hematologic

Complete blood count: n = 37

16 % (6/37)

• Thrombocytopenia n = 1

• Thrombocytopenia and anemia n = 1

• Neutropenia n = 2

• Anemia n = 2

Prolonged PTT in patient with Factor XII deficiency not included

Complete blood count: n = 101; 23 % abnormal (including 12 % with thrombocytopenia)

Immunologic

Immunology visit: n = 31

39 % (12/31)

• Abnormal immunoglobulin levels n = 7

• Inappropriate vaccine response n = 3

• Low T-cell count n = 1

• CVID n = 1

Immunology visit: n = 98; 66 % abnormal

Neurologic/calavarium

Brain MRI: n = 16

Structural anomaly 24 % (5/21)

Chiari Type I; Prominent posterior CSF space, platybasia, T2 prolongation in hippocampus; Sagittal synostosis

Neurological evaluation: n = 50; 40 % abnormal (including 15 % with seizure disorder)

EEG: n = 5

Hypotonia 27 % (10/37)

Seizure activity 19 % (7/37)

Ophthalmologic

Ophthalmology evaluation: n = 37

22 % (8/37)

• Strabismus n = 5

• Megalocornea n = 1

• Aphakia and congenital cataract n = 1

• Ptosis n = 1

Ophthalmology evaluation: n = 56; 48 % abnormal (including 23 % with strabismus)

Otolaryngology(non-palate related)

Otolaryngology evaluation: n = 37

54 % (20/37)

Ankyloglossia, dysphagia, laryngomalacia, Eustachian tube dysfunction. Surgical interventions: BMT (n = 9), T&A (n = 9)

Otolaryngology evaluation: n = 93; 83 % abnormal (including 59 % requiring BMTs and 20 % requiring T&A)

Renal

Renal ultrasound: n = 25

24 % (6/25)

VUR; Pelviectasis (n = 2); Lithiasis; Nephromegaly; Megaureter

Renal ultrasound: n = 95; 23 % abnormal

Skeletal

C-Spine x-rays: n = 11

C-spine anomaly 45 % (5/11)

Slightly large atlantodens interval; Hypoplastic PE of C1 and elongated PE of C2; Exaggerated kyphosis, lordosis; Incomplete arch C1; Lack of bony fusion of C1 and dysmorphic C2

C-Spine x-ray: n = 59; 71 % abnormal (27 % with C2-C3 fusion). Hemihypertrophy noted in 1/101.

Hemihypertophy noted in 3/37