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Cartilage Hair Hypoplasia: First report from Iran.
[hirschsprung disease]
Cartilage
hair
hypoplasia
(
CHH
)
,
is
a
rare
cause
of
metaphyseal
chondrodysplasia
and
short
stature
.
Other
featuresincluded
hair
abnormality
,
immunodeficiency
,
anemia
,
gastrointestinal
disorders
(
Hirschsprung
disease
,
celiac
,
…
)
and
increased
risk
of
cancer
.
The
disease
is
an
autosomal
recessive
disorder
and
previously
has
notbeen
reported
in
Iran
.
We
report
a
9
-
year
-old
boy
diagnosed
as
cartilage
hair
hypoplasia
,
with
severe
short
stature
,
metaphyseal
chondrodysplasia
,
hair
hypoplasia
,
Hirschsprung
disease
,
hypothyroidism
,
vesicouretral
refluxand
renal
stone
.
Renal
stone
and
hypothyroidism
have
been
reported
in
cartilage
hair
hypoplasia
with
lower
frequencies
.
This
is
the
first
report
of
cartilage
hair
hypoplasia
in
Iran
.
Diseases
Validation
Diseases presenting
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated