THE
TRICHO-RHINO-PHALANGEAL
A
REPORT
OF
14 CASES
C. J. HOWELL.
From
Tricho-rhino-phalangeal
Harlow
This
syndrome
tance,
and
characterised
long
is one
was
physes
The
with
of
nose
with
latter
were
irregular
clinodactyly,
dominant
a bulbous
premature
brachydactyly
tractures.
by van
The condition
der Werff
Ten
describe
it in any
who
hair,
a
and
finger
cone-shaped
fusion,
and
inheri-
in some
epi-
resulting
cases
finger
may have been recognised
Bosch
(1959)
but
he did
detail
or recognise
the heritable
7 KINDREDS
WYNNE-DAVIES
Hospital,
not so much
(1966)
tip,
to
IN
Orthopaedic
is probably
by Giedion
slowly-growing
due
RUTH
from the functionally
and diaphyseal
aclasis.
autosomal
first described
it by sparse
and
pear-shaped
deformities.
Wood
syndrome
to orthopaedic
surgeons,
apart
mimicking
both Perthes’
disease
wide range of clinical
variation.
SYNDROME
uncommon
as unrecognised.
Its significance
unimportant
minor
finger
deformities,
The 14 cases analysed
in this paper
less complete
information,
index
patients
and
all
reassessed
for the purpose
and radiographic
of their current
data
clinical
lies in its
illustrate
the
was from abroad.
The
their
affected
relatives
of this paper:
genetic,
were collected
problems.
and
note
first
six
were
clinical
was
made
in
confirst
not
charac-
RESULTS
The
and
patients’
all but
between
teristics.
Since these
papers,
many
more
patients
reported
and other
features
of the syndrome
noted
in some,
but not all, cases.
Perthes’-like
Mansfield
have been
have been
changes
have been seen in the hip, and multiple
exostoses
similar
to those
in diaphyseal
aclasis
have been reported
(Beals
1973; Giedion
ci a!. 1973; Weaver,
Cohen
and Smith
probably
and seven years.
In five of the index
of autosomal
dominant
to 5 1 years,
a period
of
three
Inheritance.
same
lings
ages ranged
from
I 3 months
one had been
observed
over
disorder
was
and
children.
affected
mother;
patients
the
inheritance
apparent
amongst
In these
families
fathers,
one
and
one of two brothers,
disease
since
their parents,
there
were
possibly
and two,
another
possibly
was
the
sibtwo
affected
three,
of
a variant
and joint
I I sisters
had the disorder,
as had one of two sons. The
other
two index
patients
were
sporadic
cases
but not
apparently,
as is often the case with new dominant
muta-
laxity and multiple
exostoses,
currently
called
the trichorhino-phalangeal
syndrome
Type
II, which
has autosomal
recessive
inheritance
and appears
to be extremely
rare.
We have reviewed
14 patients
from
7 families
with
tions,
due to a paternal
age effect,
since the fathers’
ages
were 3 1 and 27 years.
Sex ratio. This was equal;
three index patients
were male
and four female;
there were four males
and three (possibly five) females
among
the affected
relatives.
the Type
I syndrome,
and have summarised
the features
and outlined
the clinical
significance
of the deformities.
Presenting
with minor
1974;
Sugiura
ci al.
1976;
Langer
(1969)
and Hall
with
mental
retardation,
Sugiura
1978;
ci al. (1974)
microcephaly,
Frias
et a!.
described
skin
1979).
years.
MATERIAL
Five
index
AND
patients
and
METHOD
six
affected
relatives
attended
Harlow
Wood
Orthopaedic
Hospital,
hamshire,
one index
patient
and her affected
from St Thomas’
Hospital,
London,
and one
C. J. Howell,
City Hospital.
FRCS,
Consultant
Hucknall
Road.
R. Wynne-Davies.
2 Dale Close. St Ebbe’s.
Requests
for
reprints
©
Orthopaedic
Nottingham
OXI
Oxford
should
be sent to Mr
1986 British
030 l-620X/86/2025
Editorial
Society
$2.00
VOL.
2. MARCH
68 B. No.
ITU.
1986
of Bone
Surgeon
NG5
IPE,
England.
C. J. Howell.
Surgery
presented
movement,
aged
10
lower
limb exostoses
first diagnosed
because
lar to that of relatives
Intelligence.
This was
Stature.
found
England.
and Joint
had
Nottingson were
case, with
Two
feature.
Eight
of the patients
hand
deformities,
at or over
measured
with
Short
stature
to be a marked
more
hip
and
12
at four
their
known
normal
than
50th
and
limitation
of
years;
one presented
years,
the other
three
facial appearance
was
to be affected.
in all cases.
and body
feature,
the
pain
had presented
the age of four
disproportion
although
no
centile.
Only
with
were
simi-
was not
individual
one
of
the
seven males
had an adult
height
below
the third
centile
(151 cm); ofthe
seven females,
two were on the third centile, and a third,
at only
13 years
of age, was below
it
(126.5cm).
Both
patients
with
height
below
the third
cen311
312
C. J. HOWELL,
Fig.
Fig.
I
A girl aged 7 years.
showing
the fine
nose which
are characteristic
tile were
severely
affected
was very slightly
fingers:
the ratio
tances
Facial
by the disease.
reduced,
probably
of head-to-pubis
was normal.
appearance.
The
R. WYNNE-DAVIES
The
hair.
mean
wide mouth.
long philtrum
ofthe
tricho-rhino-phalangeal
span
because
of shortened
and pubis-to-heel
dis-
“rhino-”
part
of the syndrome
is
shown
by a pear-shaped
nose with a bulbous
tip and a
long
philtrum,
and
this was present
in 13 of the 14
patients
(Figs
I and 2). In the more
severe
cases
the
mouth
was unusually
wide, and one ofthese
patients
had
a high-arched
most
palate.
cases,
crowding,
until the
but
The
teeth
appeared
and another
had retained
her deciduous
age of nine years.
The only other
facial
teeth
abnor-
Hair.
All
was
that
patients
sometimes
of
one
had
poor
there
patient
the
quality,
was
had
pupils
typically
fine.
breaking
and
years ofage,
and another
boy had
I 2 after which
his hair never grew
hands
Deformity
was the
patient
in this
aged
24 years,
patients’
usually
radial
series
who
hands
clinodactyly
index),
and
or less
commonest
were
than
perfect
presenting
sparse
One
patients.
physes
Radiographs
during
growth,
or terminal
or
more
phalanges,
premature
brachydactyly
and
and
coning
of the
clearly
were problems
in
Two
had
quite
showed
some limitation
had a waddling
gait.
one or both
severe
of rotation
Radiographic
hips
pain,
in 6 of the
and
all six
and abduction;
changes
have
likened
to those
of Perthes’
disease,
with flattening
fragmentation
of the capital
femoral
epiphyses
premature
osteoarthritis.
Unusually
for a skeletal
plasia,
the
defect
in this
syndrome
may
one
been
and
and
dys-
be unilateral
or
out
and
at all
at 16
infant
The
stubby,
with
commonly
Angulation
the
was
were
fusion
was the cause
(Figs 3 and 4).
Hips. There
14 patients.
be radial,
or to both
levels
in the same
metacarpals
showed
variably
patients.
function
of the
sign.
The
only
short
to the ulnar
side, but could
and
ulnar
sides
at different
as the
the 14
hair,
pulling
normal
hands
was an
yet develop
deformities.
irregularly
were affected
in the same
manner
to a lesser
extent
and in only
5 of
cut at the age of
of at least one finger
(most
sometimes
ofall
four fingers.
finger.
and
and
with
may
a crew
again.
These
but
tip of the
of unequal
easily.
Most
referred
to absent
or very slow growth,
rarely
needed
a hair cut. One patient
had no hair
until
the age of two years,
one boy was balding
Hands.
in
over-
noted
patient
to be normal
marked
mality
sizes.
in one
Feet.
hands,
2
and bulbous
syndrome.
short
in
six
of affected
epiproximal,
middle
their
irregular
of the
growth
clinodactyly
Fig.
3
Fig.
4
Figure
3-Hand
ofa girl aged 31 years.
An early exostosis
is seen at the
lower ends of the radius
and ulna. and there is coning
of the epiphyses
at the bases of the middle
phalanges
of the index.
middle
and ring
fingers.
Figure
4-Hand
ofa
girl aged
141 years. The third,
fourth
and
fifth metacarpals
are short.
as is the proximal
phalanx
of the index
finger. Coned epiphyses
are seen at the bases
of the middle
phalanges
of
the index, middle
and ring fingers with slight ulnar clinodactyly.
THE
JOURNAL
OF
BONE
AND
JOINT
SURGERY
THE
Fig.
TRICHO-RHINO-PHALANGEAL
313
SYNDROME
5
Fig.
Fig.
6
Fig.
7
8
Radiographs
of the pelvis to show hips affected
by the syndrome.
Figure
5-Girl
aged 7 years. The hips show bilateral
sessile exostoses
on the
upper
femora.
The capital
femoral
epiphyses
are irregular,
flattened
and fragmented,
but do not show the areas ofincreased
density
characteristic
ofPerthes’
disease.
Figure
6-Boy
aged 10 years who presented
with hip pain. Only the left capital
femoral
epiphysis
is affected,
with irregularity
and some flattening.
Figure
7-Girl
aged I 7 years who is symptomless
but has some limitation
of movement.
The right hip only has been affected
by an epiphyseal
disturbance
during
growth.
Figure
8-Woman
aged 27 years. The right hip had an epiphyseal
disorder
during
growth.
but is now
free ofsymptoms.
The left hip is painful.
with limited
mobility,
and shows mild protrusio
acetabuli.
bilateral,
and
may
be asymmetrical
possible
that a seventh
order;
he is now 2 years
(Figs
patient
may develop
old and the capital
5 to 8).
a hip
femoral
It is
physes
disepi-
invariable
in cases
Long
bones.
The
hands
have
and
exostoses.
only
feet,
One
just
were
9
normal
patient
of the second,
third
seriously
involved
Fig.
ossified.
ofmultiple
long bones,
had
VOL.
68-B.
No. 2. MARCH
986
as
this
small
exostoses
the
heads
The more
on all long
upper
and lower
limbs
(Figs
9 and
at the age of four years at the wrist
ankle
and
developed
had
by the age of I 3 years;
with deformity.
infant
fistula,
at both
at the
knee
ends
they
of all long
were
in the mid-thoracic
One other
patient
scoliosis.
10).
and
bones
associated
who
had
a congenital
also
had
congenital
were normal
Additional
the
without
on
metacarpals.
exostoses
is
of
I 2 patients
of both
presented
Skull and chest. These
Associated
anomalies.
10
in the
and fourth
patient
had
anomalies,
with fusions
lumbosacral
hemivertebra.
right idiopathic
thoracic
Fig.
such
bones
These
Spine.
One
oesophageal
Radiographs
ofa girl aged 7 years. Figure
9Exostoses
are seen on each upper
humerus.
Figure
lO-Exostoses
are present
on the lower
femur,
at both
ends of the tibia
and at the
lower end ofthe
fibula.
A delay
epiphyseal
dysplasia.
other
than those
tracheovertebral
spine
had
in all patients.
developmental
and a
a mild
defects
found
in these patients
included
three instances
of upper
limb
joint
laxity,
and
one
case
each
of tracheooesophageal
fistula,
unilateral
hydro-ureter,
pectus
excavatum
and congenital
sternoclavicular
dislocation.
Progress
and complications.
For most patients
the problems were cosmetic
rather
than
functional.
Some
had
limitation
of finger
movement
and difficulty
in wearing
rings.
The hip disorder
was potentially
the most serious
aspect
and three patients,
aged 10, 24 and 41 years, complained
of pain.
This
had
so far
been
managed
by con-
314
C. J. HOWELL,
servative
measures,
but
it would
appear
that
R. WYNNE-DAVIES
areas
premature
study
features
inheritance,
viduals
confirms
of
the syndrome
which
gives
will
pass
the
reports
on
the
clinical
and its autosomal
dominant
a 50%
risk that affected
mdi-
disorder
on
to their
own
children.
Our series included
no example
of the so-called
Type
II
tricho-rhino-phalangeal
syndrome,
with
microcephaly,
mental
retardation,
exostoses
and joint
laxity,
although
patients
with joint
laxity
or with
exostoses
were
seen
without
any ofthe
other Type II features.
Differential
diagnosis.
A feature
of the syndrome
is the
wide
an
range
of severity,
undersized
alignment
epiphyses.
child
from
with
minor
multiple
and growth
disturbance
In one of our patients
hand
defects
only,
exostoses,
limb
to
ma]-
of the capital
femoral
the hand
defects
had
been diagnosed
as missed
fractures
and in another
as
Still’s disease,
although
there is no real similarity.
Coneshaped
phalangeal
epiphyses
are found
in many
other
skeletal
dysplasias
and are also said to occur in about
5%
ofotherwise
normal
children.
A more likely cause
of confusion
is diapkvseal
adaThis
separate
sis.
is also of dominant
epiphyseal
growth
characteristic
rhino-phalangeal
clear.
bance
hair
sidered.
but
radiographic
deterioration
inheritance,
disturbance
but there
in the digits.
and facial
appearance
syndrome
should
make
In those
cases
in one or both
with
hips,
an
Perthes’
then
of
growth
disease
must
improvement,
is no
The
of the trichothe diagnosis
epiphyseal
in the tricho-rhino-phalangeal
appearances
do not go through
and
clear.
the hips
phalangeal
previous
disturbe con-
syndrome
periods
of
there
are
no
increased
density
the metaphyses
in the hands,
diagnosis
DISCUSSION
This
of
physes,
changes
osteoarthritis
was developing.
Malalignment
ofthe
lower
limbs in the severely
affected
girl with multiple
exostoses
will probably
require
corrective
operations.
in
the
are not
hair and
Multiple
capital
femoral
epi-
involved,
and,
again,
face should
make
the
epiphvseal
affecting
dvsplasia
is very similar,
but,
unlike
syndrome,
would
always
the tricho-rhinobe bilateral.
Other
joints
are frequently
affected;
the acetabulum
show
a scalloped
outline
and the hands,
will not show the characteristic
changes.
is likely to
and face
hair
We are grateful
to the orthopaedic
surgeons
at Harlow
Orthopaedic
Hospital
and St Thomas’
Hospital
for referring
these patients
to the
Skeletal
Dysplasia
Clinic.
and for access to the clinical
material.
REFERENCES
Beals
Frias
RK. Tricho-rhino-phalangeal
JBoneJoint
Surg[Arn]
1973:55
JL, Felman AH, Garnica
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1979;15(5B):361
72.
Giedion
dysplasia:
A:821
AD,
report
of
a kindred.
6.
Wallace
SE. Variable
expressivity
syndrome
Type
I. Birth
Defects
A. Das tricho-rhino-phalangeale
85.
Syndrom.
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Paediatr
,4cta
1966:21:475-
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A, Burdea
M, Fruchter
Z, Meloni T, Trosc V. Autosomaldominant
transmission
of the tricho-rhino-phalangeal
syndrome:
report
of 4 unrelated
families.
review
of 60 cases. He/v Paediatr
..4cta 1973:28:249
59.
Hall BD,
Langer
LO,
Langer
Birth Defects
I 974:
LO. The
1969:5(4):55
thoracic
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Giedion
A, et a!.
IO( I 2) : 147 64.
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disease-like
bone change
Zas.shi 1978:23:23- 30.
Langer
phalangeal
and
--Giedion
dystrophy.
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syndrome
associated
with Perthesspondylolisthesis.
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Idengaku
Sugiura
Y, Shionoya
M, Inoue T, Tsuruta
syndrome:
report
on three
unrelated
1976:21:13
22.
T. Tricho-rhino-phalangeal
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Jpn J Hum
van der WerifTen
Bosch JJ. The syndrome
ism
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gonadal
dysgenesis.
Lancet
1959:i:69
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with
and
71.
Weaver
DD, Cohen MM,
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THE
Smith
DW.
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tricho-rhino-phalangeal
Genet
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syn-
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