Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome

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Figure.
Anterior cerebral artery configuration in Williams syndrome. MRA from a normally developing person (A) and a participant with Williams syndrome (B) showing elongation of the postcommunicating segment of the anterior cerebral artery in the participant with Williams syndrome.

Table 1:

Medical findings in participants with Williams syndrome

Participant	Age (y)	Pulse (bpm)	Blood Pressure (mm Hg)		Medical History	Cardiovascular History
Participant	Age (y)	Pulse (bpm)	Systolic	Diastolic	Medical History	Cardiovascular History
1	18	84	130	90	Inguinal hernia	Hypertension
2	18	Not available			Hypercalcemia, joint limitation	SVAS
3	18	72	90	70	Chronic otitis media, hip subluxation, kyphosis, constipation	Ventricular septal defect, SVPS, prolonged Q-T interval
4	19	64	110	80	Constipation	Negative
5	22	64	130	80	Chronic otitis media, scoliosis, rectal prolapse, constipation	Mitral valve prolapse, hypertension
6	22	Not available			Left conductive hearing loss, chronic otitis media, joint limitation	SVAS, mitral valve prolapse
7	23	64	120	60	Inguinal hernia, umbilical hernia, joint impairment	SVAS, SVPS, mitral valve prolapse
8	24	80	130	80	Chronic otitis media, inguinal hernia, joint impairment	SVAS, peripheral pulmonary stenosis, hypertension
9	29	72	120	92	Hypercalcemia	SVAS
10	30	76	120	70	Inguinal hernia	SVAS, SVPS
11	33	68	165	100	Constipation, inguinal hernia	SVAS, hypertension, renal artery stenosis
12	37	100	110	70	Diverticulitis, constipation	SVAS, carotid bruit
13	44	62	120	91	Hypercalcemia, kyphosis, chronic abdominal pain, constipation	SVAS
14	45	96	130	85	Diverticulitis	No history of hypertension

Table 2:

Prevalence of medical conditions in patients with Williams syndrome

Medical Condition	Study
	Wint et al^a (n = 14)		AAP^b (n = 315)	Cherniske et al^c (n = 20)
	n	%	%	%
Cardiovascular	12	86	80	70
SVAS	9	64	75	65
SVPS	3	21	25	15
Peripheral pulmonary stenosis	1	7	50	–
Mitral valve prolapse	3	21	−	15
Other	1	7	−	35
Hypertension	4	29	50	60
Gastrointestinal	11	79	−	75
Inguinal hernia	5	36	40	−
Constipation	7	50	40	25
Diverticular disease	3	21	30	40
Rectal prolapse	1	7	15	−
Neurologic
Hyperreflexia	7	50	75	65
Gait disturbance	11	79	60	70
Ataxia	10	71	−	−
Skeletal	6	43	50	−
Spinal	3	21	60	60
Peripheral	5	36	50	55
Chronic otitis	4	29	50	−

Note:—This is a comparison of the prevalence of medical problems in this study's participants with those reported in 2 large studies of Williams syndrome. The number of participants with each condition is listed in the leftmost column.
↵a Present study.
↵b American Academy of Pediatrics, 2001.³²
↵c Cherniske et al, 2004.³³