Introduction: Williams-Beuren syndrome is a contiguous gene syndrome caused by microdeletion of the locus 7q11.23. It is a clinically recognizable condition whose cardinal features include growth deficiency, variable degrees of neurodevelopmental disorders, congenital cardiac defects, outgoing personality, and typical facies. Case Series Presentation: This retrospective study analyzed 38 consecutive patients in a single center for rare diseases, diagnosed by Preus criteria modified by the Sugayama scoring system, comprising 17 male and 21 female individuals aged 1 month to 55 years. Cases were divided into two groups concerning (a) exclusive clinical diagnosis or (b) clinical diagnosis followed by a laboratory cytogenetic or cytogenomic test; except for hypertension, no significant difference was seen among both groups. The most frequent findings were intellectual deficiency, developmental delay, typical facies, and overfriendliness, all above 80% of the total sample. On the other hand, supravalvar aortic stenosis was found in only 32.4%, while other congenital heart diseases were seen in 56.7% of the sample. Unusual features included one individual with 13 pairs of ribs, another with unilateral microphthalmia, and three with unilateral renal agenesis. Comorbidities comprised 9 cases of hypothyroidism and 1 case each of precocious puberty, segmental vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia. Conclusion: Preus criteria modified by the Sugayama scoring system are still efficient and helpful for clinical diagnosis. This is the second report on microphthalmia and the first study describing the association between vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia in individuals with Williams-Beuren syndrome.

1.
Williams
JC
,
Barratt-Boyes
BG
,
Lowe
JB
.
Supravalvular aortic stenosis
.
Circulation
.
1961
;
24
:
1311
8
.
2.
Beuren
AJ
,
Apitz
J
,
Harmjanz
D
.
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
.
Circulation
.
1962
;
26
:
1235
40
.
3.
Kozel
BA
,
Barak
B
,
Kim
CA
,
Mervis
CB
,
Osborne
LR
,
Porter
M
, et al
.
Williams syndrome
.
Nat Rev Dis Primers
.
2021
;
7
(
1
):
42
.
4.
Preus
M
.
The Williams syndrome: objective definition and diagnosis
.
Clin Genet
.
1984
;
25
(
5
):
422
8
.
5.
Sugayama
SM
,
Leone
C
,
Chauffaille
ML
,
Okay
TS
,
Kim
CA
.
Williams syndrome. development of a new scoring system for clinical diagnosis
.
Clinics
.
2007
;
62
(
2
):
159
66
.
6.
Leme
DE
,
Souza
DH
,
Mercado
G
,
Pastene
E
,
Dias
A
,
Moretti-Ferreira
D
.
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome
.
GMR
.
2013
;
12
(
3
):
3407
11
.
7.
Grimm T
T
,
Wesselhoeft
H
.
The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis; investigation of 128 families
.
Z Kardiol
.
1980
;
69
:
168
72
.
8.
Stoermer
J
,
Olbing
H
,
Hentrich
F
,
Even
K
,
Galal
O
,
Bachmann
J
.
Das Syndrom der Supravalvulären Aortenstenose (Williams-Beuren-Syndrom) in Verbindung mit Veränderungen der Niere und ableitenden Harnwege
.
Monatsschr Kinderh
.
1984
;
132
(
2
):
110
2
.
9.
Sammour
ZM
,
Gomes
CM
,
de Bessa
J
Jr
,
Pinheiro
MS
,
Kim
CA
,
Hisano
M
, et al
.
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome
.
J Pediatr Urol
.
2014
;
10
(
5
):
804
9
.
10.
Honjo
RS
,
Monteleone
VF
,
Aiello
VD
,
Wagenfuhr
J
,
Issa
VS
,
Pomerantzeff
PMA
, et al
.
Cardiovascular findings in Williams–Beuren syndrome: experience of a single center with 127 cases
.
Am J Med Genet
.
2022
;
188
(
2
):
676
82
.
11.
Pober
BR
,
Lacro
RV
,
Rice
C
,
Mandell
V
,
Teele
RL
.
Renal findings in 40 individuals with Williams syndrome
.
Am J Med Genet
.
1993
;
46
(
3
):
271
4
.
12.
Pankau
R
,
Partsch
CJ
,
Winter
M
,
Gosch
A
,
Wessel
A
.
Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome
.
Am J Med Genet
.
1996
;
63
(
1
):
301
4
.
13.
Ingelfinger
JR
,
Newburger
JW
.
Spectrum of renal anomalies in patients with Williams syndrome
.
J Pediatr
.
1991
;
119
(
5
):
771
3
.
14.
Sugayama
SM
,
Koch
VH
,
Furusawa
EA
,
Leone
C
,
Kim
CA
.
Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)
.
Rev Hosp Clin Fac Med Sao Paulo
.
2004
;
59
(
5
):
266
72
.
15.
Schmitz
A
,
Reutershahn
E
,
Seiffert
P
,
Das
M
.
First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams–Beuren syndrome
.
Pediatr Radiol
.
2023
;
53
(
2
):
244
8
.
16.
Winter
M
,
Pankau
R
,
Amm
M
,
Gosch
A
,
Wessel
A
.
The spectrum of ocular features in the Williams-Beuren syndrome
.
Clin Genet
.
1996
;
49
(
1
):
28
31
.
17.
Todorova
MG
,
Grieshaber
MC
,
Cámara
RJ
,
Miny
P
,
Palmowski-Wolfe
AM
.
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
.
BMC Ophthalmol
.
2014
;
14
:
70
.
18.
Tsang
TW
,
Finlay-Jones
A
,
Perry
K
,
Grigg
JR
,
Popova
S
,
Cheung
MMY
, et al
.
Eye abnormalities in children with fetal alcohol spectrum disorders: a systematic review
.
Ophthalmic Epidemiol
.
2023
;
30
(
4
):
340
51
.
19.
Cambiaso
P
,
Orazi
C
,
Digilio
MC
,
Loche
S
,
Capolino
R
,
Tozzi
A
, et al
.
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome
.
J Pediatr
.
2007
;
150
(
1
):
62
5
.
20.
Kyritsi
EM
,
Kanaka-Gantenbein
C
.
Autoimmune thyroid disease in specific genetic syndromes in childhood and adolescence
.
Front Endocrinol
.
2020
;
11
:
543
2020
.
21.
Stagi
S
,
Bindi
G
,
Neri
AS
,
Lapi
E
,
Losi
S
,
Jenuso
R
, et al
.
Thyroid function and morphology in patients affected by Williams syndrome
.
Clin Endocrinol
.
2005
;
63
(
4
):
456
60
.
22.
Partsch
CJ
,
Japing
I
,
Siebert
R
,
Gosch
A
,
Wessel
A
,
Sippell
WG
, et al
.
Central precocious puberty in girls with Williams syndrome
.
J Pediatr
.
2002
;
141
(
3
):
441
4
.
23.
Stagi
S
,
Lapi
E
,
Cecchi
C
,
Chiarelli
F
,
D'Avanzo
MG
,
Seminara
S
, et al
.
Williams-Beuren syndrome is a genetic disorder associated with impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study
.
Horm Res Paediatr
.
2014
;
82
(
1
):
38
43
.
24.
Stanley
TL
,
Leong
A
,
Pober
BR
.
Growth, body composition, and endocrine issues in Williams syndrome
.
Curr Opin Endocrinol Diabetes Obes
.
2021
;
28
(
1
):
64
74
.
25.
Strømme
P
,
Bjørnstad
PG
,
Ramstad
K
.
Prevalence estimation of Williams syndrome
.
J Child Neurol
.
2002
;
17
(
4
):
269
71
.
26.
Silveira
EL
,
dos Santos
EP
,
Bachega
TA
,
van der Linden Nader
I
,
Gross
JL
,
Elnecave
RH
.
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred: an estimate based on a public neonatal screening program in the state of Goiás
.
J Pediatr Endocrinol Metab
.
2008
;
21
(
5
):
455
60
.
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