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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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