| Medline
Abstracts, Arthrogryposis, 1997-1998
Pediatr Surg
Int 1997;12(8):607-10
Successful separation of thoraco-omphalopagus
and ischiopagus tetrapus twins in Korea.
Jung PM
Pediatric Surgical Division, Department
of Surgery, Hanyang, University Hospital, 17 Haengdang dong, Sung
dong ku, Seoul, Korea.
A pair of male thoraco-omphalopagus
twins with common liver, diaphragm, pericardium, and sternum was
separated at the age of 59 days after a parasitic relationship had
developed between them. Before separation one baby developed acute
renal failure during which he had no edema and had normal serum
electrolytes, urea nitrogen, and creatinine due to "autodialysis"
by the other baby. The boys have now grown normally to the age of
6 years. A pair of female ischiopagus tetrapus twins who had a common
terminal ileum and colon with imperforate anus was separated at
the age of 20 h. The smaller baby had congenital multiple arthrogryposis
of both lower extremities, a fracture at the middle of the left
femur, and a double vagina with hydrocolpos due to an imperforate
hymen of the right vagina and a rectovaginal fistula on the left.
Posterior sagittal rectoplasties were performed at 7 months of age
in both babies. They have normal bowel movements. All four children
are alive and developing normally. These are the first two case
reports of successfully separated conjoined twins in Korea.
MeSH Terms:
- Abnormalities, Multiple/surgery*
- Adult
- Case Report
- Colon/abnormalities*
- Female
- Follow-Up Studies
- Human
- Ileum/abnormalities*
- Infant, Newborn
- Ischium/abnormalities*
- Male
- Pregnancy
- Thorax/abnormalities*
- Twins, Conjoined/surgery*
PMID: 9354737, UI: 98022986
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Anaesth
Intensive Care 1997 Oct;25(5):546-9
Intraoperative convulsions
in a child with arthrogryposis.
Ferris PE
Department of Anaesthesia, Royal
Alexandra Hospital for Children, Westmead, N.S.W.
A case of intraoperative convulsions
occurring in a child with arthrogryposis multiplex congenita is
presented. Arthrogryposis and the anaesthetic management of children
with this condition is discussed. Factors which may have contributed
to the convulsions are considered.
MeSH Terms:
- Anesthetics, Inhalation/administration & dosage
- Anesthetics, Intravenous/administration & dosage
- Arthrogryposis/physiopathology*
- Case Report
- Convulsions/etiology*
- Fever/etiology
- Fundoplication
- Gastroesophageal Reflux/surgery
- Human
- Infant
- Intraoperative Complications*
- Intubation, Intratracheal
- Male
- Neuromuscular Nondepolarizing Agents/administration & dosage
- Nitrous Oxide/administration & dosage
- Tachycardia, Sinus/etiology
- Thiopental/administration & dosage
- Vecuronium Bromide/administration & dosage
Substances:
- Thiopental
- Vecuronium Bromide
- Nitrous Oxide
- Neuromuscular Nondepolarizing Agents
- Anesthetics, Intravenous
- Anesthetics, Inhalation
PMID: 9352771, UI: 98014137
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Am
J Hum Genet 1997 Nov;61(5):1139-43
A gene for arthrogryposis
multiplex congenita neuropathic type is linked to D5S394 on chromosome
5qter.
Shohat M, Lotan R, Magal N, Shohat
T, Fischel-Ghodsian N, Rotter JI, Jaber L
Medical Genetics and Felsenstein
Medical Research Center, Rabin Medical Center, Beilison Campus,
Petah Tiqva, Israel. mshohat@ccsg.tau.ac.il
Arthrogryposis multiplex congenita
(AMC) is a heterogeneous-symptom complex characterized by joint
contractures at birth that involve more than one part of the body.
We performed a genetic-linkage study of one large Israeli-Arab inbred
kindred showing autosomal recessive inheritance of AMC neuropathic
type that had been recently investigated by our group. After analysis
of approximately 80% of the genome, D5S1456, which showed no increased
homozygosity, showed increased genotype sharing in affected individuals.
Linkage analysis in all family members revealed linkage between
AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination
fraction .001). Analysis of additional markers in this region places
the gene causing AMC in this family between D5S1456 and D5S498.
MeSH Terms:
- Arabs
- Arthrogryposis/genetics*
- Arthrogryposis/ethnology
- Chromosome Mapping
- Chromosomes, Human, Pair 5/genetics*
- Female
- Genes, Recessive/genetics
- Human
- Israel
- Linkage (Genetics)*
- Lod Score
- Male
- Microsatellite Repeats/genetics
- Pedigree
- Software
- Support, Non-U.S. Gov't
PMID: 9345093, UI: 98007998
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Am
J Med Genet 1997 Oct 31;72(3):335-8
Cerebral defects and nephrogenic
diabetes insipidus with the ARC syndrome: additional findings or
a new syndrome (ARCC-NDI)?
Coleman RA, Van Hove JL, Morris CR,
Rhoads JM, Summar ML
Department of Nutrition, University
of North Carolina at Chapel Hill 27599, USA.
We report on 4 children from 2 unrelated
families who appear to have the lethal ARC syndrome (arthrogryposis,
renal tubular dysfunction, and cholestasis) together with the additional
findings of nephrogenic diabetes insipidus and cerebral anomalies,
including deafness. With increased survival time in our patients,
paucity of the intrahepatic bile ductules and cholestasis progressed
to cirrhosis, growth was severely impaired, and severe mental retardation
became apparent. No evidence was found for peroxisomal, chromosomal,
or mitochondrial disorders. We propose to amend the ARC mnemonic
to ARCC-NDI (A-Arthrogryposis, R-renal Fanconi, C-cerebral, C-cholestasis,
NDI-nephrogenic diabetes insipidus) to name the major manifestations
of this syndrome, several of which have not been appreciated.
MeSH Terms:
- Abnormalities, Multiple/pathology*
- Abnormalities, Multiple/genetics
- Arthrogryposis/pathology*
- Arthrogryposis/genetics
- Case Report
- Cholestasis/pathology*
- Cholestasis/genetics
- Diabetes Insipidus, Nephrogenic/pathology*
- Diabetes Insipidus, Nephrogenic/genetics
- Fanconi Syndrome/pathology
- Fanconi Syndrome/genetics
- Female
- Human
- Infant
- Infant, Newborn
- Kidney Tubules/abnormalities*
- Male
- Mental Retardation/pathology*
- Mental Retardation/genetics
- Syndrome
PMID: 9332665, UI: 97473823
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Neuropediatrics
1997 Aug;28(4):198-203
Pediatric congenital bilateral
perisylvian syndrome: clinical and MRI features in 12 patients.
Gropman AL, Barkovich AJ, Vezina
LG, Conry JA, Dubovsky EC, Packer RJ
Department of Neurology, Children's
National Medical Center, George Washington University Medical Center,
Washington, DC, USA.
In 1926, Foix, Chavany and Marie described
an acquired syndrome of fasciopharyngoglossomasticatory diplegia
resulting from bilateral infarction of the anterior operculum. Clinical
features consisted of facial diplegia, dysarthria, pseudobulbar
palsy, mild to severe mental retardation, and seizures. A developmental
form, similar in presentation in adults with MRI findings consisting
of bilateral perisylvian cortical malformation consistent with polymicrogyria
involving the sylvian fissure and opercular cortex, has been recognized;
but few pediatric cases of congenital bilateral perisylvian syndrome
(CBPS) have been reported. Over the past four years, we have encountered
12 cases of CBPS presenting in childhood. Age ranges were from 1
week to 11 years with a median of 2.25 years; six were less than
two years of age. Seven were male and five female. Ten had bilateral
perisylvian polymicrogyria on MRI; two had unilateral perisylvian
schizencephaly with contralateral perisylvian polymicrogyria. Clinical
manifestations included developmental delay in 7; poor palatal function
in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea
in 3; paraparesis in 2; micrognathia in 2; pectus excavatum in 2;
quadriparesis in 1; and hearing loss in 1. Seizures occurred in
seven (58%) and consisted of infantile spasms (n = 1), generalized
tonic-clonic (n = 1), complex partial (n = 2), partial motor (n
= 2; 1 with secondary generalization), and febrile convulsions (n
= 1). CBPS has different manifestations in the pediatric population
than in adults. CBPS is more common than previously thought, is
recognizable by MRI and should be suspected clinically in any infant
or child presenting with oromotor dysfunction/pseudobulbar signs
and developmental delay, especially if there are associated congenital
malformations. Epilepsy is not a constant feature in the pediatric
presentation and is variable in type and severity.
MeSH Terms:
- Abnormalities, Multiple/physiopathology
- Abnormalities, Multiple/pathology*
- Adult
- Arthrogryposis/complications
- Cerebral Cortex/physiopathology
- Cerebral Cortex/pathology
- Cerebral Cortex/abnormalities*
- Child
- Child, Preschool
- Developmental Disabilities/pathology
- Developmental Disabilities/etiology
- Electroencephalography
- Epilepsy/pathology
- Epilepsy/etiology
- Facial Paralysis/congenital
- Female
- Human
- Infant
- Infant, Newborn
- Magnetic Resonance Imaging
- Male
- Palate/physiopathology
- Paralysis/congenital*
- Retrospective Studies
- Syndrome
PMID: 9309709, UI: 97455338
[back to list]
Neurology
1997 Sep;49(3):848-51
Arthrogryposis due to infantile
neuronal degeneration associated with deletion of the SMNT gene.
Bingham PM, Shen N, Rennert H, Rorke
LB, Black AW, Marin-Padilla MM, Nordgren RE
Division of Child Neurology, Children's
Hospital of Philadelphia, PA 19104, USA.
To determine whether SMNT deletion
may be associated with arthrogryposis, we tested DNA extracted from
paraffin blocks for deletion of SMNT (exons 7 and 8). Analysis of
the DNA showed an SMNT deletion in two of four infants with neurogenic
arthrogryposis. In addition to loss of anterior horn cells, patients
with SMNT deletion had degeneration of central sensory neurons in
Clarke's column and the thalamus. Although one of the patients with
no deletion also had cortical pathology, clinical and pathologic
characteristics of the two patients without deletion were otherwise
similar to the two patients with deletion. Arthrogryposis and degeneration
of sensory neurons may be associated with deletion of SMNT.
MeSH Terms:
- Anterior Horn Cells/pathology
- Arthrogryposis/pathology
- Arthrogryposis/genetics*
- Case Report
- Exons/genetics
- Female
- Gene Deletion*
- Human
- Infant, Newborn
- Male
- Muscular Atrophy, Spinal/pathology
- Muscular Atrophy, Spinal/genetics*
- Neurons, Afferent/physiology
- Support, U.S. Gov't, P.H.S.
Grant support:
PMID: 9305352, UI: 97450364
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Am
J Med Genet 1997 Sep 5;71(4):458-62
Microcephaly with agenesis
of corticospinal tracts and arthrogryposis, hypospadias, single
umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously
undescribed syndrome.
Coad JE, Angel C, Pierpont ME, Gorlin
RJ, Anderson ML
Department of Laboratory Medicine
and Pathology, University of Minnesota Medical School, Minneapolis
55455, USA.
We describe a small, term, male infant
with corticospinal tract aplasia secondary to motor cortex dysplasia
from a neuronal proliferation and/or migrational defect. The infant
also had microdolichocephaly, sloping forehead, hypertelorism, flat
nose, apparently low-set ears, micrognathia, arthrogryposis without
muscle wasting, cortical thumbs, rocker-bottom feet, scoliosis,
single umbilical artery, and hypospadias with chordee. Oligohydramnios
was present prenatally. Neurologic examination showed a comatose
state, seizures, minimal spontaneous movement, minimal response
to pain, and absent primitive reflexes. At autopsy, hypoplasia of
kidneys and adrenal glands was found. There was no aqueductal stenosis
or pulmonary hypoplasia. Chromosomes were apparently normal. These
manifestations do not correspond to those of any recognized syndrome;
therefore, this patient may represent a previously undefined syndrome.
MeSH Terms:
- Abnormalities, Multiple/pathology*
- Abnormalities, Multiple/classification
- Adrenal Glands/abnormalities
- Brain/pathology
- Brain/abnormalities
- Case Report
- Child
- Child, Preschool
- Fatal Outcome
- Female
- Human
- Hypospadias
- Infant, Newborn
- Kidney/abnormalities
- Male
- Microcephaly
- Spinal Cord/abnormalities
- Syndrome
- Umbilical Arteries/pathology
PMID: 9286455, UI: 97432569
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Am
J Med Genet 1997 Sep 5;71(4):401-5
Arthrogryposis multiplex congenita,
craniofacial, and ophthalmological abnormalities and normal intelligence:
a new syndrome?
al-Ghamdi MA, Polomeno RC, Chitayat
D, Azouz EM, Teebi AS
Department of Pediatrics, Montreal
Children's Hospital, McGill University, Quebec, Canada.
We report on an 8-year-old boy with
clinical manifestations suggestive of a new arthrogryposis syndrome.
These included characteristic craniofacial abnormalities, cleft
palate, arthrogryposis multiplex congenita, pulmonary hypoplasia,
cryptorchidism, and unusual ophthalmological findings. There was
no intrauterine growth retardation or decreased fetal movements.
Despite the poor prognosis expected in early life, the patient presented
with normal mental capability on follow-up. Family data showed that
a maternal first cousin of the mother (mother's brother's son) had
similar findings and died in infancy. Differential diagnosis included
Pena-Shokeir syndrome or phenotype, Gordon syndrome, Marden-Walker
syndrome, and the syndrome of arthrogryposis with ophthalmoplegia
and retinopathy. The possibility of autosomal dominant inheritance
with reduced penetrance is suggested for this apparently new syndrome.
MeSH Terms:
- Abnormalities, Multiple/radiography
- Abnormalities, Multiple/genetics*
- Abnormalities, Multiple/classification
- Case Report
- Child
- Craniofacial Abnormalities/radiography
- Craniofacial Abnormalities/genetics*
- Craniofacial Abnormalities/classification
- Diagnosis, Differential
- Eye Abnormalities/radiography
- Eye Abnormalities/genetics*
- Eye Abnormalities/classification
- Female
- Human
- Intelligence
- Male
- Syndrome
PMID: 9286445, UI: 97432559
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Am
J Med Genet 1997 Aug 8;71(2):127-9
Earliest evidence for arthrogryposis
multiplex congenita or Larsen syndrome?
Anderson T
Canterbury Archaeological Trust,
Kent, UK.
A sixteenth-century illustrated pamphlet from Great Britain suggests
that documentary evidence may permit accurate diagnosis of pathological
conditions in earlier societies. The document is of particular importance,
since the presented congenital abnormalities, including cleft lip,
spina bifida cystica, genu recurvatum, and talipes deformity are
reported rarely in archaeological skeletal material. It is suggested
that the combination of abnormalities may represent the earliest
case of arthrogryposis multiplex congenita or Larsen syndrome.
Publication Types:
MeSH Terms:
- Abnormalities, Multiple/history*
- Arthrogryposis/history*
- Cleft Lip/history
- Cleft Palate/history
- Foot Deformities, Congenital/history
- Great Britain
- History of Medicine, 16th Cent.
- Human
- Infant, Newborn
- Male
- Medical Illustration/history
- Syndrome
PMID: 9217208, UI: 97360180
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J
Pediatr Orthop B 1997 Jul;6(3):192-7
Arthrogrypotic joint contracture
at the knee and the foot: correction with a circular frame.
Brunner R, Hefti F, Tgetgel JD
Department of Children's Orthopaedics,
University of Basle, Kinderspital, Switzerland.
The purpose of this study was to investigate
the efficacy of an external fixator (Ilizarov apparatus) for the
treatment of severe joint contractures in patients with arthrogryposis
multiplex congenita. Thirteen knees and 16 feet were treated in
13 patients at an average age of 11.9 years. The knee flexion contractures
were corrected from 38.9 degrees preoperatively to a mean of 6.5
degrees postoperatively and to 17.3 degrees at follow-up (34 months).
In the foot deformities, the equinus position was corrected from
29.7 degrees to 7.8 degrees on average. This external fixator is
an efficient tool for correction of deformities in arthrogryposis.
Publication Types:
MeSH Terms:
- Adolescence
- Arthrogryposis/surgery*
- Arthrogryposis/physiopathology
- Arthrogryposis/diagnosis
- Child
- Child, Preschool
- Contracture/therapy*
- Contracture/etiology
- External Fixators*
- Female
- Follow-Up Studies
- Foot Deformities, Congenital/surgery*
- Foot Deformities, Congenital/etiology
- Human
- Knee Joint/surgery*
- Knee Joint/abnormalities
- Male
- Range of Motion, Articular
- Treatment Outcome
PMID: 9260648, UI: 97407415
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J
Pediatr Orthop B 1997 Jul;6(3):186-91
Management of knee deformity
in classical arthrogryposis multiplex congenita (amyoplasia congenita).
Murray C, Fixsen JA
Orthopaedic Department, Great Ormond
Street Hospital for Children, London, United Kingdom.
We describe the management of significant
knee deformity in 44 knees of 22 patients suffering from classical
arthrogryposis multiplex congenita (amyoplasia congenita). Follow-up
ranged from a minimum of 18 months to 19 years 3 months, with an
average 7 years 8 months. Thirteen patients showed fixed flexion
of the knees at birth and 9 showed fixed extension. All were treated
initially by physiotherapy and splintage, which was successful in
all except 1 patient in the extended-knee group, whereas only 7
to 26 knees responded to physiotherapy and splintage alone in the
flexed-knee group. Walking ability in the extended-knee group was
high; 8 of 9 were community walkers with or without walking aids
and orthoses and only one was a therapeutic walker. By contrast,
in the flexed-knee group, despite posterior release surgery, which
sometimes had to be repeated, only to 6 of 13 patients were community
walkers at follow-up, 2 were household walkers, 3 were therapeutic
walkers, and 2 had stopped walking in adolescence and preferred
to use a wheelchair full time. Long-term splintage is recommended
but does not always prevent recurrence of deformity. Bony surgery
was used only toward the end of growth or in one case when very
severe deformity necessitated its use at an early age and it subsequently
had to be repeated. Despite their severe handicap and multiple deformities,
this group of children show a remarkable determination to walk with
or without walking aids and orthoses.
MeSH Terms:
- Adolescence
- Adult
- Arthrogryposis/surgery
- Arthrogryposis/rehabilitation*
- Arthrogryposis/physiopathology
- Arthrogryposis/diagnosis
- Child
- Child, Preschool
- Female
- Follow-Up Studies
- Human
- Infant
- Knee Joint/physiopathology
- Knee Joint/abnormalities*
- Male
- Orthopedics/methods*
- Physical Therapy*
- Prognosis
- Range of Motion, Articular
- Registries
- Retrospective Studies
- Treatment Outcome
PMID: 9260647, UI: 97407414
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J
Pediatr Orthop B 1997 Jul;6(3):179-85
Principles of treatment of
the upper extremity in arthrogryposis multiplex congenita type I.
Axt MW, Niethard FU, Doderlein L,
Weber M
Department of Orthopaedic Surgery,
University of Heidelberg, Germany.
The involvement of the upper limb
in arthrogryposis multiplex congenita for many patients means a
far-reaching dependency on outside help. The extension contracture
of the elbow joint especially makes it impossible to reach the mouth
or to perform hygienic necessities. Therefore, the rehabilitation
program includes an improvement of passive elbow flexion by capsulotomy
or of active flexion by triceps transfer if possible, or both. In
bilateral involvement, the optimal solution is to have one arm in
flexion for reaching the head and mouth passively or even actively
and one arm in extension for hygienic necessities. From 1973 to
1993 we performed 22 releases of the elbow contracture in 16 children.
An additional triceps transfer was performed in five elbows. The
overall results showed a marked increase of the range of motion
and a functional improvement concerning the daily activities (in
17 children). In 5 children there was no gain but also no loss of
functional capacities. In 3 of 5 children with an additional triceps
transfer, an improvement of active flexion was attained. Pre- and
postoperative physiotherapy is at least as important as the operative
procedure itself.
Publication Types:
MeSH Terms:
- Adolescence
- Arm/surgery*
- Arm/physiopathology
- Arm/abnormalities
- Arthrogryposis/surgery*
- Arthrogryposis/rehabilitation*
- Arthrogryposis/physiopathology
- Child
- Child, Preschool
- Elbow Joint/surgery
- Elbow Joint/physiopathology
- Elbow Joint/abnormalities
- Female
- Foot Deformities, Congenital/therapy
- Foot Deformities, Congenital/radiography
- Foot Deformities, Congenital/etiology
- Hand Deformities, Congenital/therapy
- Hand Deformities, Congenital/radiography
- Hand Deformities, Congenital/etiology
- Human
- Infant
- Male
- Orthopedics/methods*
- Physical Therapy/methods*
- Prognosis
- Range of Motion, Articular
- Shoulder Joint/surgery
- Shoulder Joint/physiopathology
- Shoulder Joint/abnormalities
- Wrist Joint/surgery
- Wrist Joint/physiopathology
- Wrist Joint/abnormalities
PMID: 9260646, UI: 97407413
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J Pediatr
Orthop B 1997 Jul;6(3):172-8
Multiple congenital contractures.
Vanpaemel L, Schoenmakers M, van
Nesselrooij B, Pruijs H, Helders P
Department of Orthopaedics, Aalsters
City Hospital, Aalst, Belgium.
A cross-sectional study of 28 patients
with multiple congenital contractures of miscellaneous origin is
presented. We describe the clinical, genetic, and neurological diagnosis
and the involvement of upper and lower extremities and spine. All
treatments that patients received so far as well as functional outcome
were studied. We compared these factors in children with anterior
horn cell degeneration (AHCD) or amyoplasia with those of children
with contractures of other origin. A correct genetical diagnosis
of multiple congenital contracture is important because children
with AHCD will need more extensive treatment than others, and their
functional outcome seems to be worse.
MeSH Terms:
- Abnormalities, Multiple/therapy*
- Abnormalities, Multiple/etiology*
- Abnormalities, Multiple/diagnosis
- Abnormalities, Multiple/classification
- Adolescence
- Adult
- Anterior Horn Cells
- Arthrogryposis/therapy*
- Arthrogryposis/etiology*
- Arthrogryposis/diagnosis
- Arthrogryposis/classification
- Brain Diseases/complications
- Child
- Child, Preschool
- Combined Modality Therapy
- Cross-Sectional Studies
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Human
- Infant
- Male
- Orthopedics
- Prognosis
- Quality of Life
- Retrospective Studies
PMID: 9260645, UI: 97407412
[back to list]
J Pediatr
Orthop B 1997 Jul;6(3):167-71
Arthrogryposis multiplex congenita:
perinatal and electromyographic findings, disability, and psychosocial
outcome.
Sodergard J, Hakamies-Blomqvist L,
Sainio K, Ryoppy S, Vuorinen R
Department of Surgery, Children's
Hospital, Finland.
Fifty-two patients with arthrogryposis
multiplex congenita were followed up for 1 to 36 years. There were
six twin pregnancies, and delivery was complicated by breech position
in 16 cases. In 19 cases the cause was atrophy of the alpha motoneurons
of the spinal cord, detected by electromyography. Six patients did
not achieve walking ability. Severe disability for other reasons
was noted in two patients who had bilateral rigid extension contractures
of the elbows and in six patients whose spinal deformities interfered
with the balance of the trunk. Treatment of flexion contractures
of the hips and knees seemed to be important in case it promotes
the walking ability. Spinal deformities interfering with the balance
of the trunk should be treated operatively. Restoration of elbow
flexion was the main goal in operative treatment of the upper extremities.
The intelligence of the patients was slightly above normal. The
psychological analysis revealed significant diverging features compared
with average population in testing situation. Socially the patients
seemed to cope well.
MeSH Terms:
- Adolescence
- Adult
- Arthrogryposis/psychology*
- Arthrogryposis/physiopathology
- Arthrogryposis/diagnosis*
- Child
- Child, Preschool
- Disabled Persons/rehabilitation*
- Disabled Persons/psychology*
- Diseases in Twins
- Electromyography
- Female
- Finland
- Follow-Up Studies
- Human
- Infant
- Infant, Newborn
- Male
- Maternal Age
- Pregnancy
- Pregnancy Complications
- Prognosis
- Psychological Tests
- Quality of Life
- Questionnaires
- Social Adjustment
PMID: 9260644, UI: 97407411
[back to list]
J Pediatr Orthop B 1997
Jul;6(3):159-66
Arthrogryposis multiplex congenita: etiology,
genetics, classification, diagnostic approach, and general aspects.
Hall JG
Department of Pediatrics, University of British
Columbia, Vancouver, Canada.
Arthrogryposis is a sign associated with many specific
conditions and syndromes. It is a term used to describe the presence
of multiple joint contractures that are present at birth. It can
be seen in isolation or in association with other congenital abnormalities
as part of a syndrome with or without central nervous system involvement.
The exact pathogenesis of arthrogryposis is unknown, but all involve
fetal akinesia (decreased fetal movement) with subsequent joint
contractures. In this article I describe the causes, genetic aspects,
classification, and approach to diagnosis.
Publication Types:
Comments:
- Comment in: J Pediatr Orthop B 1997 Jul;6(3):157
MeSH Terms:
- Arthrogryposis/therapy
- Arthrogryposis/genetics
- Arthrogryposis/etiology*
- Arthrogryposis/classification*
- Child, Preschool
- Contracture/physiopathology
- Contracture/etiology
- Contracture/diagnosis
- Diagnosis, Differential
- Female
- Human
- Infant
- Infant, Newborn
- Male
- Prognosis
- Risk Factors
- Syndrome
PMID: 9260643, UI: 97407410 |