Retardation mental motor growth Peculiar facies Antimongoloid slant of eyes Ocular abnormalities Naevus flammeus on forehead or nape of neck Incomplete descended testes-low down Respiratory problems Allergies Congenital heart disease t Abnormalities recorded on EEG Fig. 2 Fig. 3 Figure 2-Broad fifth fingers with hypoplastic fifth metacarpal. Figure 3-Radiograph of hand showing broad fifth finger with abnormal phalanges, hypoplastic fifth metacarpal, fusion of bases of fourth and fifth metacarpals, fusion of the triquetral-lunate and trapezoid. capitate bones. VOL. 62-B, No. 3. AUGUST 1980 297 CERVICAL SPONDYLOLISTHESIS AND OTHER SKELETAL ABNORMALITIES IN RUBINSTEIN-TAYBI SYNDROME M. J. ROBSON, L. M. BROWN, W. J. W. SHARRARD From the Department of Orthopaedic Surgery, The Children ‘s Hospital, Sheffield A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed. A syndrome of mental, motor and growth retarda- tion was described by Rubinstein and Taybi in 1 963 ; it had previously been reported by Michail, Matsoukas and Th#{233}odorou (1 957). Further distinguishing features include broad thumbs and great toes, characteristic facies-in particular a beaked nose and antimongoloid slant of the eyes-and other abnormalities (Tables I and II). Table I. General features of the Rubinstein-Taybi syndrome a Rubinstein and Taybi ( 1 963) t Coffin (1964) CASE REPORT The progress of a 14-year-old girl with Rubinstein-Taybi syndrome had been followed at the Sheffield Children’s Hospital since she was two years old (Fig. 1 ). She had the typical mental, motor and growth retardation, microcephaly, an antimongoloid slant of the eyes, and a beaked, wide-bridged nose. She also had the high arched palate, broad great toes, broad fifth fingers (Figs 2 and 3), maxillary hypoplasia and a history of recurrent respiratory infections. Chromosome studies were Photograph of the patient showing the typical features associated with the Rubinstein-Taybi syndrome. M. J. Robson, FRCS, Senior Orthopaedic Registrar The Orthopaedic Department, The Childrens Hospital, W. J. W. Sharrard, MD, ChM, FRCS, Consultant Orthopaedic Surgeon 5 Western Bank, Sheffield 510 2TH, England. L. M. Brown, MD, Orthopaedic Surgeon, Department ofOrthopaedic Surgery. Michael Reese Hospital and Medical Center, Chicago, Illinois 60616, U.S.A. Requests for reprints should be sent to Mr M. J. Robson.
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Incomplete descended testes-low down
Figure 2-Broad fifth fingers with hypoplastic fifth metacarpal. Figure 3-Radiograph of hand showing broad fifth finger with abnormal phalanges, hypoplastic fifth metacarpal, fusion of bases of fourth and fifth metacarpals, fusion of the triquetral-lunate and trapezoid.
capitate bones.
CERVICAL SPONDYLOLISTHESIS AND OTHER SKELETAL
ABNORMALITIES IN RUBINSTEIN-TAYBI SYNDROME
M. J. ROBSON, L. M. BROWN, W. J. W. SHARRARD
From the Department of Orthopaedic Surgery, The Children ‘s Hospital, Sheffield
A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed.
A syndrome of mental, motor and growth retarda-
tion was described by Rubinstein and Taybi in 1 963 ; it
had previously been reported by Michail, Matsoukas
and Th#{233}odorou (1 957). Further distinguishing features
include broad thumbs and great toes, characteristic
facies-in particular a beaked nose and antimongoloid slant of the eyes-and other abnormalities (Tables I and
II).
a Rubinstein and Taybi ( 1 963) t Coffin (1964)
CASE REPORT
The progress of a 14-year-old girl with Rubinstein-Taybi syndrome
had been followed at the Sheffield Children’s Hospital since she was
two years old (Fig. 1 ). She had the typical mental, motor and growth
retardation, microcephaly, an antimongoloid slant of the eyes, and a
beaked, wide-bridged nose. She also had the high arched palate, broad
great toes, broad fifth fingers (Figs 2 and 3), maxillary hypoplasia and a
history of recurrent respiratory infections. Chromosome studies were
Photograph of the patient showing the typical features associated with the Rubinstein-Taybi
syndrome.
M. J. Robson, FRCS, Senior Orthopaedic Registrar The Orthopaedic Department, The Childrens Hospital, W. J. W. Sharrard, MD, ChM, FRCS, Consultant Orthopaedic Surgeon 5 Western Bank, Sheffield 510 2TH, England. L. M. Brown, MD, Orthopaedic Surgeon, Department ofOrthopaedic Surgery. Michael Reese Hospital and Medical Center, Chicago, Illinois 60616, U.S.A.
Requests for reprints should be sent to Mr M. J. Robson.
Abnormalities First description
High arched palate Rubinstein and Taybi 1963
Beaked nose Rubinstein and Taybi 1963
Broad terminal phalanges-usually thumbs and great toes Rubinstein and Taybi 1963
298 M. J. ROBSON, L. M. BROWN, W. J. W. SHARRARD
THE JOURNAL OF BONE AND JOINT SURGERY
Table II. Musculoskeletal abnormalities of Rubinstein-Taybi syndrome
Minor
Intraspinal neurilemmoma
Simian sternum
Pectus excavatum
Six lumbar vertebrae
Webbing of fingers
Unilateral sixth toe
Pronated feet
Club feet
Rubinstein and Taybi 1963
Rubinstein and Taybi 1963
Rubinstein and Taybi 1963
Coffin 1964
Coffin 1964
normal (Garcia et al. 1975). This patient exhibited some additional
skeletal abnormalities not previously associated with Rubinstein-
Taybi syndrome: congenital fusions, hemivertebrae and wedging of
the vertebrae from the sixth cervical to the fifth thoracic level (Figs 4 to
6); spondylolisthesis between the fifth and sixth cervical vertebrae
(Figs 4 and 5); sacralisation of the fifth lumbar vertebra; long and narrow (android) pelvis with small iliac crests; fused fourth and fifth metacarpals; bilateral abnormal phalanges of the fifth finger; bilateral trapezoid-capitate and triquetral-lunate fusion (Fig. 3); fused middle
and distal phalanges of the fourth toe and fused fourth and fifth
metatarsals. At the age of 1 3 she was admitted to the Orthopaedic Department
for treatment of tetraplegia of sudden onset. The motor and sensory
findings corresponded to a complete paralysis below the fifth cervical
neural segment. A review of her history revealed a gradual onset of
weakness and dyskinesia over the preceding two years with a recent rapid progression, culminating in her emergency admission.
Cervical radiography showed spondylolisthesis between the fifth
and sixth cervical vertebrae (Figs 4, 5 and 6), and myelography showed
spinal stenosis between the sixth and seventh cervical vertebrae (Fig.
7). Emergency treatment consisted of head traction (halter and six
kilograms weight) with the patient ona Stryker frame. On the second day after her admission spinal fusion was performed in which a
Cloward dowel was inserted anteriorly between the fourth and fifth, fifth and sixth, and sixth and seventh cervical vertebral bodies. On the
fifth day after operation voluntary movements had returned to her lower limbs. A collar was worn for the first eight weeks, and 14 weeks after operation she was able to walk with only a walking frame for
support. Her grip remained fairly weak, although other functions of
the upper extremity had returned to her normal level.
Fig. 4 Fig. 5 Fig. 6
Lateral radiograph (Fig. 4) with key (Fig. 5) and anteroposterior radiograph (Fig. 6) of region of cervical spine showing congenital fusions, hemivertebrae, and wedging of the sixth cervical vertebra through to the fifth thoracic vertebra, with spondylolisthesis between the fifth and sixth
cervical vertebrae, and fusion of the first and second ribs.
Fig. 7
Myelogram showing spinal stenosis at the level between the sixth and seventh cervical vertebrae.
CERVICAL SPONDYLOLISTHESIS AND OTHER SKELETAL ABNORMALITIES IN RUBINSTEIN-TAYBI SYNDROME 299
VOL. 62-B, No. 3, AUGUST 1980
DISCUSSION
syndrome have been reported. This child had multiple
skeletal anomalies, the most important clinically being
the cervical spondylolisthesis, which resulted in tetra- plegia.
Cervical spondylolisthesis is an extremely rare condition in itself: only two female patients are reported
in the literature (Dawley 1971; Hanai Miyashita and Saburi 1976), both of whom exhibited a concomitant
cervical spina bifida. Our case is the first report of
cervical spondylolisthesis in a patient exhibiting Rubinstein-Taybi syndrome.
Without commenting on the possible aetiology of
Rubinstein-Taybi syndrome, Padfield et al. (1968) reported on a patient who had spasticity in both upper and lower extremities and ankle clonus. Der Kaloustian et al. (1972) stated that their patient had muscle
denervation which they felt could be consistent with pathological lesions of the spinal cord. Therefore we feel that a thorough neurological examination with radiolog-
ical evaluation of the cervical spine should be performed in all cases of Rubinstein-Taybi syndrome. If anomalies
of the cervical spine are revealed, repeated examination must be undertaken at regular intervals to detect any evidence of spondylolisthesis.
REFERENCES
Coffin GS. Brachydactyly, peculiar facies and mental retardation. Am J Dis Child I964;1O&351-9.
Coignet J, Aubrespy P, Passeron Ph, Sltruk S. Le syndrome de Rubinstein-Taybi. Arch Fr Pediatr I 969;26:81 5-6.
Dawley J. Spondylolisthesis of the cervical spine. J Neurosurg 1971 ;34:99-lOl.
Der Kaloustian VM, Afifi AK, Sinno AA, Mire J. The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study. Am J Dis Child I 972;124:897-902.
Garcia FP, Hsu LYF, Fox H, Gribetz D. Trisomy 13 and Rubinstein-Taybi syndrome. J Med Genet l975;l2:104-5. Hanai K. Miyashita T; Saburi H. Cervical spondylolisthesis. Acta Orthop Scand 1976;47:63-6.
Michall J, Matsoukas J, Theodorou S. Pouce bot argue en forte abduction-extension et autres symptomes concomitants. Rev Chir Orthop I 957;43: I 42-6.
Naveh Y, Friedman A. A case of Rubinstein-Taybi syndrome. Clin Pediatr (Phila) 1 976;15:779-83.
Padfield Ci, Partington MW, Simpson NE. The Rubinstein-Taybi syndrome. Arch Dis Child I 968;43:94-10l.
Figure 2-Broad fifth fingers with hypoplastic fifth metacarpal. Figure 3-Radiograph of hand showing broad fifth finger with abnormal phalanges, hypoplastic fifth metacarpal, fusion of bases of fourth and fifth metacarpals, fusion of the triquetral-lunate and trapezoid.
capitate bones.
CERVICAL SPONDYLOLISTHESIS AND OTHER SKELETAL
ABNORMALITIES IN RUBINSTEIN-TAYBI SYNDROME
M. J. ROBSON, L. M. BROWN, W. J. W. SHARRARD
From the Department of Orthopaedic Surgery, The Children ‘s Hospital, Sheffield
A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed.
A syndrome of mental, motor and growth retarda-
tion was described by Rubinstein and Taybi in 1 963 ; it
had previously been reported by Michail, Matsoukas
and Th#{233}odorou (1 957). Further distinguishing features
include broad thumbs and great toes, characteristic
facies-in particular a beaked nose and antimongoloid slant of the eyes-and other abnormalities (Tables I and
II).
a Rubinstein and Taybi ( 1 963) t Coffin (1964)
CASE REPORT
The progress of a 14-year-old girl with Rubinstein-Taybi syndrome
had been followed at the Sheffield Children’s Hospital since she was
two years old (Fig. 1 ). She had the typical mental, motor and growth
retardation, microcephaly, an antimongoloid slant of the eyes, and a
beaked, wide-bridged nose. She also had the high arched palate, broad
great toes, broad fifth fingers (Figs 2 and 3), maxillary hypoplasia and a
history of recurrent respiratory infections. Chromosome studies were
Photograph of the patient showing the typical features associated with the Rubinstein-Taybi
syndrome.
M. J. Robson, FRCS, Senior Orthopaedic Registrar The Orthopaedic Department, The Childrens Hospital, W. J. W. Sharrard, MD, ChM, FRCS, Consultant Orthopaedic Surgeon 5 Western Bank, Sheffield 510 2TH, England. L. M. Brown, MD, Orthopaedic Surgeon, Department ofOrthopaedic Surgery. Michael Reese Hospital and Medical Center, Chicago, Illinois 60616, U.S.A.
Requests for reprints should be sent to Mr M. J. Robson.
Abnormalities First description
High arched palate Rubinstein and Taybi 1963
Beaked nose Rubinstein and Taybi 1963
Broad terminal phalanges-usually thumbs and great toes Rubinstein and Taybi 1963
298 M. J. ROBSON, L. M. BROWN, W. J. W. SHARRARD
THE JOURNAL OF BONE AND JOINT SURGERY
Table II. Musculoskeletal abnormalities of Rubinstein-Taybi syndrome
Minor
Intraspinal neurilemmoma
Simian sternum
Pectus excavatum
Six lumbar vertebrae
Webbing of fingers
Unilateral sixth toe
Pronated feet
Club feet
Rubinstein and Taybi 1963
Rubinstein and Taybi 1963
Rubinstein and Taybi 1963
Coffin 1964
Coffin 1964
normal (Garcia et al. 1975). This patient exhibited some additional
skeletal abnormalities not previously associated with Rubinstein-
Taybi syndrome: congenital fusions, hemivertebrae and wedging of
the vertebrae from the sixth cervical to the fifth thoracic level (Figs 4 to
6); spondylolisthesis between the fifth and sixth cervical vertebrae
(Figs 4 and 5); sacralisation of the fifth lumbar vertebra; long and narrow (android) pelvis with small iliac crests; fused fourth and fifth metacarpals; bilateral abnormal phalanges of the fifth finger; bilateral trapezoid-capitate and triquetral-lunate fusion (Fig. 3); fused middle
and distal phalanges of the fourth toe and fused fourth and fifth
metatarsals. At the age of 1 3 she was admitted to the Orthopaedic Department
for treatment of tetraplegia of sudden onset. The motor and sensory
findings corresponded to a complete paralysis below the fifth cervical
neural segment. A review of her history revealed a gradual onset of
weakness and dyskinesia over the preceding two years with a recent rapid progression, culminating in her emergency admission.
Cervical radiography showed spondylolisthesis between the fifth
and sixth cervical vertebrae (Figs 4, 5 and 6), and myelography showed
spinal stenosis between the sixth and seventh cervical vertebrae (Fig.
7). Emergency treatment consisted of head traction (halter and six
kilograms weight) with the patient ona Stryker frame. On the second day after her admission spinal fusion was performed in which a
Cloward dowel was inserted anteriorly between the fourth and fifth, fifth and sixth, and sixth and seventh cervical vertebral bodies. On the
fifth day after operation voluntary movements had returned to her lower limbs. A collar was worn for the first eight weeks, and 14 weeks after operation she was able to walk with only a walking frame for
support. Her grip remained fairly weak, although other functions of
the upper extremity had returned to her normal level.
Fig. 4 Fig. 5 Fig. 6
Lateral radiograph (Fig. 4) with key (Fig. 5) and anteroposterior radiograph (Fig. 6) of region of cervical spine showing congenital fusions, hemivertebrae, and wedging of the sixth cervical vertebra through to the fifth thoracic vertebra, with spondylolisthesis between the fifth and sixth
cervical vertebrae, and fusion of the first and second ribs.
Fig. 7
Myelogram showing spinal stenosis at the level between the sixth and seventh cervical vertebrae.
CERVICAL SPONDYLOLISTHESIS AND OTHER SKELETAL ABNORMALITIES IN RUBINSTEIN-TAYBI SYNDROME 299
VOL. 62-B, No. 3, AUGUST 1980
DISCUSSION
syndrome have been reported. This child had multiple
skeletal anomalies, the most important clinically being
the cervical spondylolisthesis, which resulted in tetra- plegia.
Cervical spondylolisthesis is an extremely rare condition in itself: only two female patients are reported
in the literature (Dawley 1971; Hanai Miyashita and Saburi 1976), both of whom exhibited a concomitant
cervical spina bifida. Our case is the first report of
cervical spondylolisthesis in a patient exhibiting Rubinstein-Taybi syndrome.
Without commenting on the possible aetiology of
Rubinstein-Taybi syndrome, Padfield et al. (1968) reported on a patient who had spasticity in both upper and lower extremities and ankle clonus. Der Kaloustian et al. (1972) stated that their patient had muscle
denervation which they felt could be consistent with pathological lesions of the spinal cord. Therefore we feel that a thorough neurological examination with radiolog-
ical evaluation of the cervical spine should be performed in all cases of Rubinstein-Taybi syndrome. If anomalies
of the cervical spine are revealed, repeated examination must be undertaken at regular intervals to detect any evidence of spondylolisthesis.
REFERENCES
Coffin GS. Brachydactyly, peculiar facies and mental retardation. Am J Dis Child I964;1O&351-9.
Coignet J, Aubrespy P, Passeron Ph, Sltruk S. Le syndrome de Rubinstein-Taybi. Arch Fr Pediatr I 969;26:81 5-6.
Dawley J. Spondylolisthesis of the cervical spine. J Neurosurg 1971 ;34:99-lOl.
Der Kaloustian VM, Afifi AK, Sinno AA, Mire J. The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study. Am J Dis Child I 972;124:897-902.
Garcia FP, Hsu LYF, Fox H, Gribetz D. Trisomy 13 and Rubinstein-Taybi syndrome. J Med Genet l975;l2:104-5. Hanai K. Miyashita T; Saburi H. Cervical spondylolisthesis. Acta Orthop Scand 1976;47:63-6.
Michall J, Matsoukas J, Theodorou S. Pouce bot argue en forte abduction-extension et autres symptomes concomitants. Rev Chir Orthop I 957;43: I 42-6.
Naveh Y, Friedman A. A case of Rubinstein-Taybi syndrome. Clin Pediatr (Phila) 1 976;15:779-83.
Padfield Ci, Partington MW, Simpson NE. The Rubinstein-Taybi syndrome. Arch Dis Child I 968;43:94-10l.
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