CASE 1. Patient I1, the proband of the first family,
was referred to our institution for evaluation of scoliosis at the age of ten
years. He was the product of a normal pregnancy and delivery and was the
offspring of nonconsanguineous parents who originated from a Pacific island.
Patient I1 had two sisters (Patients
I4 and I5) and two brothers (Patients
I2 and I3). The biological father was
192-cm tall and had arachnodactyly and bilateral clubfoot. The father's father
had crumpled ears, contractures of the knees, and pectus carinatum. Both the
biological mother and the mother's mother were believed to have arachnodactyly
and contractures of the thumbs. Physical examination of our patient revealed
crumpling of the ear helix, slender extremities, pectus carinatum,
contractures of the elbows, arachnodactyly, and camptodactyly. The patient had
no hip-related symptoms. No abnormalities of the heart or eyes were found.
Initial radiographs demonstrated mild scoliosis and normal hip joints. At
fifteen years of age, the patient underwent posterior instrumentation and
fusion for the treatment of progressive scoliosis. A pelvic radiograph made at
the time of the spinal operation demonstrated protrusio acetabuli
(Fig. 1). The siblings of our
patient were subsequently examined because of their physical resemblance to
the patient. The clinical findings are summarized in
Table I.CASE 2. Patient I2 was a nine-year-old boy at the time
of first consultation, with tall stature, slender body habitus,
arachnodactyly, camptodactyly (Fig.
2), bilateral contractures of the elbows, and bilateral crumpled
ear helices. Mild scoliosis was present. Echocardiography revealed mitral
valve thickening with prolapse. The ophthalmologic evaluation was normal.CASE 3. Patient I3, the proband's younger brother by
five years, was nine years old when he was first seen at our institution. He
presented with bilateral crumpled ear helices, lumbar scoliosis, contractures
of the knee joints, small-joint contractures, camptodactyly, arachnodactyly,
and dolichostenomelia. When the patient was twelve years of age, an
echocardiogram was made, which revealed no abnormalities. The lumbar scoliosis
remained stable over the period of follow-up, during which the patient wore a
brace.CASE 4. Patient I4, a ten-year-old girl at first
examination, did not have ear deformities. She was tall and slender, had
bilateral arachnodactyly, camptodactyly, and contractures of the wrists,
elbows, and ankle joints. At a follow-up examination two years later,
radiographs demonstrated mild scoliosis. The cardiac and ophthalmologic
examinations were normal.CASE 5. Patient I5, the youngest sister, was five years
old when first examined. She presented with dolichostenomelia, bilateral
crumpled ear helices, arachnodactyly, camptodactyly, pectus carinatum, and
scoliosis. She had contractures of the large joints as well as the small
joints. An echocardiogram revealed mild mitral regurgitation. No abnormalities
of the eyes were found.CASE 6. Patient II1, the proband of the second family
and the twin brother of Patient II2, was nine years old
when he was seen at our institution for the evaluation of possible congenital
contractural arachnodactyly. His paternal great-grandmother was 195-cm tall
and had camptodactyly. The paternal grandfather as well as the father and
three of the father's four brothers had contractures of the elbows and knees.
The father was one of the patients in the original study by Beals and
Hecht1. One uncle
had been diagnosed with scoliosis. On physical examination, Patient
II1 presented with spina bifida occulta at the level of
L4-L5, dolichostenomelia, bilateral crumpled ear helices
(Fig. 3), arachnodactyly,
camptodactyly, flexion contractures of the knees and elbows, and pectus
carinatum. An echocardiogram made when the patient was fifteen years of age
revealed mild mitral insufficiency. No abnormalities of the eyes were
found.CASE 7. Patient II2, the twin brother of Patient
II1, was subsequently examined. He was fourteen years old
at the time of first examination, and he presented with the same clinical
features as Patient II1 but lacked the cardiac
complications. Additionally, radiographic examination revealed mild
scoliosis.
CASE 1. Patient I1, the proband of the first family,
was referred to our institution for evaluation of scoliosis at the age of ten
years. He was the product of a normal pregnancy and delivery and was the
offspring of nonconsanguineous parents who originated from a Pacific island.
Patient I1 had two sisters (Patients
I4 and I5) and two brothers (Patients
I2 and I3). The biological father was
192-cm tall and had arachnodactyly and bilateral clubfoot. The father's father
had crumpled ears, contractures of the knees, and pectus carinatum. Both the
biological mother and the mother's mother were believed to have arachnodactyly
and contractures of the thumbs. Physical examination of our patient revealed
crumpling of the ear helix, slender extremities, pectus carinatum,
contractures of the elbows, arachnodactyly, and camptodactyly. The patient had
no hip-related symptoms. No abnormalities of the heart or eyes were found.
Initial radiographs demonstrated mild scoliosis and normal hip joints. At
fifteen years of age, the patient underwent posterior instrumentation and
fusion for the treatment of progressive scoliosis. A pelvic radiograph made at
the time of the spinal operation demonstrated protrusio acetabuli
(Fig. 1). The siblings of our
patient were subsequently examined because of their physical resemblance to
the patient. The clinical findings are summarized in
Table I.
CASE 2. Patient I2 was a nine-year-old boy at the time
of first consultation, with tall stature, slender body habitus,
arachnodactyly, camptodactyly (Fig.
2), bilateral contractures of the elbows, and bilateral crumpled
ear helices. Mild scoliosis was present. Echocardiography revealed mitral
valve thickening with prolapse. The ophthalmologic evaluation was normal.
CASE 3. Patient I3, the proband's younger brother by
five years, was nine years old when he was first seen at our institution. He
presented with bilateral crumpled ear helices, lumbar scoliosis, contractures
of the knee joints, small-joint contractures, camptodactyly, arachnodactyly,
and dolichostenomelia. When the patient was twelve years of age, an
echocardiogram was made, which revealed no abnormalities. The lumbar scoliosis
remained stable over the period of follow-up, during which the patient wore a
brace.
CASE 4. Patient I4, a ten-year-old girl at first
examination, did not have ear deformities. She was tall and slender, had
bilateral arachnodactyly, camptodactyly, and contractures of the wrists,
elbows, and ankle joints. At a follow-up examination two years later,
radiographs demonstrated mild scoliosis. The cardiac and ophthalmologic
examinations were normal.
CASE 5. Patient I5, the youngest sister, was five years
old when first examined. She presented with dolichostenomelia, bilateral
crumpled ear helices, arachnodactyly, camptodactyly, pectus carinatum, and
scoliosis. She had contractures of the large joints as well as the small
joints. An echocardiogram revealed mild mitral regurgitation. No abnormalities
of the eyes were found.
CASE 6. Patient II1, the proband of the second family
and the twin brother of Patient II2, was nine years old
when he was seen at our institution for the evaluation of possible congenital
contractural arachnodactyly. His paternal great-grandmother was 195-cm tall
and had camptodactyly. The paternal grandfather as well as the father and
three of the father's four brothers had contractures of the elbows and knees.
The father was one of the patients in the original study by Beals and
Hecht1. One uncle
had been diagnosed with scoliosis. On physical examination, Patient
II1 presented with spina bifida occulta at the level of
L4-L5, dolichostenomelia, bilateral crumpled ear helices
(Fig. 3), arachnodactyly,
camptodactyly, flexion contractures of the knees and elbows, and pectus
carinatum. An echocardiogram made when the patient was fifteen years of age
revealed mild mitral insufficiency. No abnormalities of the eyes were
found.
CASE 7. Patient II2, the twin brother of Patient
II1, was subsequently examined. He was fourteen years old
at the time of first examination, and he presented with the same clinical
features as Patient II1 but lacked the cardiac
complications. Additionally, radiographic examination revealed mild
scoliosis.
Radiographic Analysis
The available standard anteroposterior pelvic radiographs of these seven
patients were retrospectively evaluated for the presence of protrusio
acetabuli. For the identification of protrusio acetabuli, we used (1) the
presence of an abnormal acetabular line position (=1 mm medial to the
ilioischial line in boys, =3 mm in
girls27); (2) a
center-edge angle (formed by a vertical line drawn through the center of the
femoral head and a line drawn from the center through the lateral edge of the
acetabular roof) of 40° or more; and (3) crossing of the teardrop figure
by the ilioischial line. Since it is difficult in mild cases of protrusio
acetabuli to reliably distinguish between a physiological deep acetabulum and
true acetabular protrusion on the basis of a single radiographic indicator,
most authors currently accept the diagnosis of protrusio acetabuli if findings
derived with at least two of the measurement methods above suggest the
diagnosis28. In the
present study, the diagnosis of protrusio acetabuli was accepted with the
presence of an abnormal line position plus one other finding. Progression of
protrusio acetabuli was evaluated on serial pelvic radiographs made at the
time of the initial diagnosis and at the time of the final follow-up.
All seven patients (five males and two females) presented with the
phenotypic aspects of congenital contractural arachnodactyly
(Table I). None of the patients
had hip symptoms at the time of the initial diagnosis or at the time of the
final follow-up. Standard anteroposterior radiographs of the pelvis, made at
the time of the initial evaluation, were available for all seven patients
(Table II). When the initial
pelvic radiographs were made, the mean age of the patients was 9.9 years
(range, five to fifteen years). Of the seven patients, five
(I1, I2, I3, I4,
and II1) were found to have bilateral protrusio acetabuli.
On the initial pelvic radiographs of these five patients, the average distance
between the acetabular line and the ilioischial line in the protruded hips was
2.5 mm (range, 1 to 3 mm); the average center-edge angle in the ten protruded
hips was 45.4° (range, 36° to 54°); and four teardrops were open
and six were crossed. On the initial pelvic radiographs of the two patients
who had congenital contractural arachnodactyly without protrusio acetabuli
(I5 and II2), the average distance
between the acetabular line and the ilioischial line was 1 mm (range, 0 to 2
mm); the average center-edge angle was 37° (range, 34° to 42°);
and all four teardrops were open.
Radiographs made at the time of final follow-up for evaluation of
progression of protrusio acetabuli were available for five patients. Over an
average period of 4.4 years (range, one to nine years), protrusio acetabuli
also developed in the four nonprotruded hips, resulting in fourteen of
fourteen hips with protrusio acetabuli. At the time of the final follow-up,
the mean age of the patients was 14.3 years (range, nine to eighteen years);
the average distance between the acetabular line and the ilioischial line in
the ten hips for which radiographs were available was 3.2 mm (range, 2 to 4
mm); the average center-edge angle was 48° (range, 36° to 60°);
and all teardrops were crossed.
In the first family with congenital contractural arachnodactyly, Patients
I2 and I4 did not show evident
progression of the protrusio. Only in the youngest member of the family,
Patient I5, did both open teardrops become crossed, and
the distance between the acetabular line and the ilioischial line increased by
2 mm over a period of five years. In the siblings II1 and
II2, the average distance between the acetabular line and
the ilioischial line increased by 2.3 mm, and the average center-edge angle
increased by 10.5° over a period of nine years for sibling
II1 and three years for sibling
II2.
We described seven skeletally immature patients (five siblings in one
family, and two siblings in the other) who were diagnosed with typical
congenital contractural arachnodactyly by our clinical medical geneticist. All
of the children presented with the phenotypic aspects of congenital
contractural arachnodactyly (Table
I). None of the patients had ectopia lentis or aortic involvement,
which are complications associated with the phenotypically similar Marfan
syndrome. Five of the seven patients with congenital contractural
arachnodactyly had evidence of protrusio acetabuli on the initial pelvic
radiograph. The hip deformity also developed over a period of approximately
four years in the two remaining patients, who initially had been diagnosed
with congenital contractural arachnodactyly without protrusio acetabuli. In
the first family, only the youngest sibling showed evident progression of
protrusio acetabuli; however, in both siblings of the second family with
congenital contractural arachnodactyly, progression of the hip deformity was
observed. None of the patients had hip symptoms at any point during the
evaluation period.
It is important to note that the patients included in this study were all
seen at a pediatric orthopaedic institute; thus, it is possible that this
population of patients with congenital contractural arachnodactyly may
represent a select population with more severe skeletal manifestations than
might be seen in a more generalized orthopaedic setting.
Our report on protrusio acetabuli in patients with congenital contractural
arachnodactyly is consistent with the published reports on protrusio acetabuli
in patients with Marfan
syndrome20,29,
suggesting that the skeletal features seen in patients with congenital
contractural arachnodactyly or Marfan syndrome are the result of specific
aspects of fibrillin-deficiency pathogenesis. Even though protrusio acetabuli
has been observed to be generally asymptomatic in the majority of adult
patients with Marfan syndrome, the hip deformity has been associated with a
slight decrease in the Iowa hip
score24,
occasionally resulting in severe pain and degenerative changes in the hip
joints of patients with Marfan
syndrome20,24,30-32.
Therefore, for all patients with congenital contractural arachnodactyly, we
would recommend making at least one standard anteroposterior radiograph of the
pelvis at the time of the first assessment to look for the presence of
protrusio acetabuli and another at the time of a later follow-up to rule out
possible progression of the deformity. ?