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PubMed1978

Carpal length in children--a useful measurement in the diagnosis of rheumatoid arthritis and some concenital malformation syndromes.

The distance between the midpoint of the distal radial epiphyseal growth plate and the proximal end of the third metacarpal offers a useful measure for determining wrist size. Standards of this distance as compared to intermetacarpal width and second metacarpal length are presented. These measures (or ratios) should be useful in evaluating patients with juvenile rheumatoid arthritis and a number of congenital malformation syndromes, particularly when the carpals are still not fully ossified. Shortening of the carpus occurs in multiple epiphyseal dysplasia, the otopalatodigital syndromes, Turner syndrome, arthrogryposis, and in juvenile rheumatoid arthritis. A relatively large carpus is present in achondroplasia.

Adolescent↗

PubMed1999

Single-shot fast spin-echo MR imaging of the fetus: a pictorial essay.

Ultrasonography (US) is the modality of choice for prenatal screening, but occasionally additional imaging information is needed. Magnetic resonance (MR) imaging is an attractive alternative but until recently has been limited by motion artifact. Single-shot fast spin-echo MR imaging was used to depict normal and abnormal anatomy in 26 fetuses. Thirteen studies were performed for maternal indications and 13 were performed to evaluate fetal abnormalities identified or suspected at US. Three of the fetal abnormalities involved the central nervous system (CNS) and 10 involved other anatomic sites. Results were correlated with findings at postnatal clinical examination, imaging, and pathologic analysis. MR imaging demonstrated normal fetal anatomy without substantial motion artifact. CNS structures were well visualized as early as 18-20 weeks gestation, as were most other normal anatomic structures except the heart. MR imaging also allowed characterization of a variety of abnormalities of the CNS (Arnold-Chiari malformation, Walker-Warburg syndrome, amniotic band syndrome) as well as of other structures (renal agenesis, multicystic dysplastic kidney, abdominal masses, severe limb-body wall defect, clubfoot with arthrogryposis, diaphragmatic hernia). US findings were confirmed in most cases, and additional information about the precise diagnosis or the severity or location of the anomaly often helped guide clinical management. Single-shot fast spin-echo MR imaging of the fetus is a useful adjunct to US in difficult diagnostic situations.

Congenital Abnormalities↗

PubMed2000

Fetal skeletal dysplasia: three-dimensional US--initial experience.

PURPOSE: To compare the prenatal ultrasonographic (US) features of skeletal dysplasia by using two-dimensional (2D) and three-dimensional (3D) US to determine whether 3D US can reveal additional diagnostic information. MATERIALS AND METHODS: Seven pregnant women suspected of having skeletal dysplasia were examined by using 2D US and 3D US. Data regarding the thorax, spine, face, limbs, hands, and feet were compared. Multiplanar and volume-rendered US images were evaluated. RESULTS: The skeletal dysplasias studied included camptomelic dysplasia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-limbed dysplasia (n = 1). Three-dimensional US, by allowing review in a standard anatomic orientation, was better than 2D US in depicting abnormal spatial relationships such as short ribs, splayed digits, and absent bones. Three-dimensional US enabled the acquisition of additional information in two fetuses with facial abnormalities and in two fetuses with scapular aplasia or hypoplasia (one fetus had both facial and scapular anomalies); it enabled a specific diagnosis in one fetus. The archiving capabilities of 3D US allow the review and manipulation of data after the patient has left the clinic. CONCLUSION: In three of seven patients, 3D US provided additional information in the evaluation of skeletal dysplasias, as compared with 2D US.

Bone Diseases, Developmental↗

PubMedDate not supplied

Functional upper airway obstruction in a child with Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.

Abnormalities, Multiple↗

PubMed2006

Trisomy of chromosome 18 in the baboon (Papio hamadryas anubis).

Trisomy 18 is usually a lethal chromosomal abnormality and is the second most common autosomal trisomy in humans, with an incidence of 1:8000 live births. It is commonly associated with abnormalities of the lower and upper extremities, having the frequency of 95% and 65%, respectively. A newborn female olive baboon (Papio hamadryas anubis) was diagnosed with intrauterine growth retardation and severe arthrogryposis-like congenital joint deformities. Cytogenetic analysis including G-banding and fluorescence in situ hybridization (FISH) revealed that the congenital abnormalities were associated with chromosomal mosaicism for trisomy 18. Genetic analysis with microsatellites from chromosome 18 confirmed the maternal origin of the extra chromosome 18. This is the first report of trisomy 18 in the baboon, which may be a promising animal model of human disease.

Abnormalities, Multiple↗

PubMed1985

Mannosidosis in Galloway calves.

Mannosidosis was diagnosed in four stillborn Galloway calves and an autolyzed full-term fetus from experimental matings of carrier animals. Gross lesions were moderate internal hydrocephalus, and pallor and enlargement of the liver and kidneys and arthrogryposis. Histologic changes in the central nervous system of each calf were marked foamy vacuolation of the cytoplasm of neurones in the cerebral cortex, thalamus and brainstem, and vacuolation of the Purkinje cells of the cerebellum. Spheroids were common throughout the brain and there was also consistent severe foamy cytoplasmic vacuolation of renal tubular epithelial cells and hepatocytes. The activities of alpha-mannosidase, the lysosomal enzyme whose activity is deficient in mannosidosis, and activities of five other lysosomal enzymes were compared in brain, liver, and kidney tissues of three mannosidosis-affected calves and normal calf tissues. Tissues from the affected calves had a marked deficiency of alpha-mannosidase activity compared with the normal tissues; the greatest deficiency was in the liver (99%) and brain (98%). Activities of the other lysosomal enzymes were elevated in the affected tissues compared with normal. Mannosidosis is a lysosomal storage disease that results from a defect in glycoprotein metabolism and affects man, Angus and Angus-related breeds of cattle, such as Murray greys, and the cat. The congenital disease is caused by an inherited deficiency of the lysosomal enzyme alpha-mannosidase, and is inherited in an autosomal recessive manner. Mannosidosis was recently reported in a number of aborted and stillborn Australian Galloway calves from an experimental breeding trial. This is more detailed account of the histological and biochemical results obtained during the trial.

Animals↗

PubMed2002

Severe spinal muscular atrophy variant associated with congenital bone fractures.

Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

Bone and Bones↗

PubMed1992

Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant.

To investigate the diagnostic validity of electromyography in the hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year period, were studied retrospectively. The diagnoses using clinical, muscle biopsy, and laboratory characteristics were: 25 central hypotonia, 20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy, four benign congenital hypotonia, two congenital muscular dystrophy, two myasthenia gravis, one infantile inflammatory myopathy, and one arthrogryposis multiplex congenita. Using strict criteria, electromyography accurately predicted the final diagnosis in 65% of infants with spinal muscular atrophy and was consistent with the diagnosis in another 25%. In contrast, electromyography accurately predicted the final diagnosis in only 10% of infants with myopathy and was normal in 88% of infants with central hypotonia. In infants with spinal muscular atrophy, there was no difference in the predictive value of electromyography when performed in the newborn compared to older infants. Normal distal nerve conduction velocities in infants with spinal muscular atrophy may predict prognosis, since these infants had a longer survival. Electromyography thus has a high predictive value for infantile spinal muscular atrophy but not for myopathy.

Biopsy↗

PubMed1995

Neuroaxonal degeneration in sheep grazing Sorghum pastures.

During the fall of 1992, 250 (10%) of 2,500 Rambouilet cross feeder lambs grazing Sorghum bicolor developed neurologic signs including weakness, ataxia, head shaking, knuckling of the fetlocks, inability to rise, and opisthotonos. One hundred fifteen (46%) of the affected lambs died. Twenty of the surviving lambs exhibited residual neurologic signs of ataxia when stressed. At the same time, 275 (25%) of 1,100 ewes grazing a nearby sudex pasture (S. sudanese x S. bicolor) gave birth to lambs that were weak and unable to rise. Newborn lambs exhibited extensor rigidity and opisthotonos when assisted to a standing position. The dystocias that occurred were due to lambs with contracted limbs (arthrogryposis). All affected lambs died or were euthanized. Histologic examination of the brains of 3 feeder lambs and 9 newborn lambs revealed similar microscopic lesions. The predominant change was the presence of focal axonal enlargements (spheroids) in the proximal segments of axons, which were restricted to the nuclei of the medulla, cerebellum, and midbrain. In addition, the spinal cord contained spheroids in the ventral horn gray matter of the 6 newborns examined. Ultrastructurally, the spheroids were composed of aggregates of neurofilaments, mitochondria, vesicular bodies, and dense bodies bounded by a thin myelin sheath. There was mild gliosis in the more severely affected animals of both groups. There was minimal Wallerian degeneration in the white matter adjacent to affected nuclei in the brain and the ventromedial and dorsolateral funiculi of the spinal cord. This is the first detailed report of Sorghum toxicity in sheep.

Animal Feed↗

PubMed1980

Congenital convex pes valgus: results of an early comprehensive release and a review of congenital vertical talus at Richmond Crippled Children's Hospital and the University of Alabama in Birmingham.

Nineteen patients with 28 feet with congenital vertical talus were reviewed. The male to female ratio was equal, and associated congenital abnormalities were found in 15 of the 19 patients. No genetic pattern was established. Fifteen of the 16 surgically corrected feet were reevaluated, with an average follow-up of 60 months. Ten of the 15 feet were found to be in the good to excellent category, and five were rated poor. Twelve of 12 feet treated by cast correction were poor. Poor prognostic signs include late age of surgical correction, associated arthrogryposis and cerebral palsy, and an increased space between the calcaneus and cuboid. Best results occurred in those patients who had early surgical correction, after 4 to 6 months of serial casting, using magnification. Surgical technique which yielded the best results involved total release of the talus from the posterior, medial, and lateral approach, with reduction of the talocalcaneal as well as the talonavicular joints with multiple pin fixation. Lengthening of the Achilles tendon, extensor tendons, and peroneal tendons and transfer of the anterior tibialis to the navicular are recommended. Navicular excision was not found to be necessary. Surgical results in those patients over 3 1/2 years of age were found to be poor, and these individuals were considered for salvage procedures using a subtalar extra articular arthrodesis, excision of the navicular, or triple arthrodesis, depending on age.

Casts, Surgical↗

PubMed1981

Pantalar arthrodesis: a long-term follow-up.

Eighty-three pantalar arthrodeses in 69 patients performed at the Shriners Hospital for Crippled Children, Greenville, South Carolina, between 1941 and 1977 were evaluated. Follow-up was from 1 to 33 years. Diagnoses included poliomyelitis, myelodysplasia, arthrogryposis, clubfeet, and extremity or spinal cord trauma. Methods of fusion were one-stage pantalar arthrodesis, two-stage triple ankle fusion, one-stage completion of prior tarsal fusion, and one-stage denudation of the talus. Pantalar arthrodesis is successful in the paralytic sensitive foot with a stable knee and there is no greater incidence of nonunion in the one-stage (Hunt-Thompson) procedure than in the two-stage procedure. Complications and failure of fusion are common in the insensitive foot.

Ankle Joint↗

PubMed1991

Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage.

An infant with Pena-Shokeir phenotype was born to a cocaine-using mother. The pathologic findings included polyhydramnios, facial anomalies, arthrogryposis, camptodactyly, pulmonary hypoplasia, and tetralogy of Fallot. The neuropathologic findings were diffuse brainstem and spinal cord neuronal degeneration and focal cerebral infarction, consistent with acquired intrauterine ischemic damage.

Abnormalities, Multiple↗

PubMed2005

A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease.

Hepatomegaly is a sign of many liver disorders. To identify zebrafish mutants to serve as models for hepatic pathologies, we screened for hepatomegaly at day 5 of embryogenesis in 297 zebrafish lines bearing mutations in genes that are essential for embryonic development. Seven mutants were identified, and three have phenotypes resembling different liver diseases. Mutation of the class C vacuolar protein sorting gene vps18 results in hepatomegaly associated with large, vesicle-filled hepatocytes, which we attribute to the failure of endosomal-lysosomal trafficking. Additionally, these mutants develop defects in the bile canaliculi and have marked biliary paucity, suggesting that vps18 also functions to traffic vesicles to the hepatocyte apical membrane and may play a role in the development of the intrahepatic biliary tree. Similar findings have been reported for individuals with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, which is due to mutation of another class C vps gene. A second mutant, resulting from disruption of the tumor suppressor gene nf2, develops extrahepatic choledochal cysts in the common bile duct, suggesting that this gene regulates division of biliary cells during development and that nf2 may play a role in the hyperplastic tendencies observed in biliary cells in individuals with choledochal cysts. The third mutant is in the novel gene foie gras, which develops large, lipid-filled hepatocytes, resembling those in individuals with fatty liver disease. These mutants illustrate the utility of zebrafish as a model for studying liver development and disease, and provide valuable tools for investigating the molecular pathogenesis of congenital biliary disorders and fatty liver disease.

Animals↗

PubMed1993

Hydranencephaly in newborn calves in Zambia.

Hydranencephaly without arthrogryposis was observed in three newborn Holstein-Friesian calves, born during one week in a 400-cow dairy herd in Zambia. The affected calves were blind and exhibited nystagmus and depressed behavior. Akabane virus infection was suspected based on the pathological findings and etiological data, however, we could not determine the exact causative agent.

Animals↗

PubMed2003

Fetal bladder outlet obstruction in a stillborn bovine fetus.

A stillborn bovine male fetus with abdominal distention, arthrogryposis and atresia ani was presented for diagnostic evaluation. At necropsy, this fetus had a large amount of ascites, urachal obstruction and marked bladder distention. The ventral surface of the bladder had ruptured and attached to the abdominal wall by fibrinous adhesions. There was bilateral hydronephrosis with moderate pelvic dilatation and cortical attenuation. The rectum was filled with meconium but the anus was imperforate. The right forelimb was contracted. The cause(s) of these abnormalities could not be determined; however, we believe that developmental abnormalities during embryogenesis may be the result of chromosomal abnormalities.

Abnormalities, Multiple↗

PubMed1976

Hip dysplasia in the African Bantu.

Dysplasia of the hip is almost unknown in the Bantu peoples of Africa, except in cases of arthrogryposis and in those with partly European ancestry. Evidence is produced to show that the importance of intrinsic genetic factors in hip dysplasia far outweighs that of the extrinsic factors. These are of great importance only if allowed to act on a hip in which genetic factors have already determined dysplasia. Evidence is also produced to contradict the theory that the "piggyback" carrying method used by Bantu mothers is the reason for the immunity from dysplasia of the hip. The absence of "primary" osteoarthritis of the hip is noted, and the range of hip disorders leading to "secondary" osteoarthritis in the adult African is compared with that in the adult European. Three patients are described, one in each of the groups mentioned above, the third having an isolated "typical" congenital dislocation of one hip. The methods of study used were enquiry into obstetric history and into carrying methods, and arthrography to confirm clinical findings. The experience of other surgeons working in Africa is recorded.

Child, Preschool↗

PubMed2001

Talectomy in patients with recurrent deformity in club foot. A long-term follow-up study.

We reviewed 24 feet in 15 patients who had undergone talectomy for recurrent equinovarus deformity; 21 were associated with arthrogryposis multiplex congenita, two with myelomeningocele and one with idiopathic congenital talipes equinovarus. The mean follow-up was 20 years. Good results were achieved in eight feet (33%) in which further surgery was not needed and walking was painless; a fair result was obtained in ten feet (42%) in which further surgery for recurrence of a hindfoot deformity had been necessary but walking was painless; the remaining six feet (25%) were poor, with pain on walking. All patients wore normal shoes and could walk independently, except one who was wheelchair-bound because of other joint problems. Recurrent deformity, the development of tibiocalcaneal arthritis and spontaneous fusion of the tibia to the calcaneum were all seen in these patients.

Child↗

PubMed1999

Spinal dysraphism in a newborn Holstein-Friesian calf.

Spinal dysraphism, not associated with vertebral defect or arthrogryposis, was found in a 3-day-old Holstein-Friesian calf that was clinically diagnosed as having encephalopathy. The dysraphic lesion occurred in the sixth (C6) and seventh (C7) segments of the cervical spinal cord. Microscopically, the lesion was characterized by hydromyelia, syringomyelia, anomaly of the ventral median fissure, abnormal running of the myelinated nerve fibers in the white column, and absence of the central canal due to a developmental defect of the ependymal cells.

Animals↗