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PubMed1997

Ovine fetal malformations induced by in utero inoculation with Main Drain, San Angelo, and LaCrosse viruses.

The teratogenic potential of three bunyaviruses, two California serogroup bunyaviruses, LaCrosse virus and San Angelo virus, and a Bunyamwera serogroup member, Main Drain virus, in sheep was studied following in utero inoculation of ewes in early gestation. Although Main Drain virus appeared to be most teratogenic, all three viruses induced a range of lesions including arthrogryposis, hydrocephalus, fetal death, axial skeletal deviations, anasarca, and oligohydramnios. The teratogenic effects of these viruses are identical to those described in ovine infections by Cache Valley and Akabane viruses. Demonstration of a common bunyaviral tropism for fetal tissue infection that results in congenital brain and musculoskeletal malformations provides evidence that human in utero infection by bunyaviruses could result in similar malformations in human infants.

Abnormalities, Multiple↗

PubMed1975

Congenital anomalies in a neonatal white-tailed deer in Alberta.

In September, 1973, a live male 2-3 day old white-tailed deer (Odocoileur virginianus) with multiple anomalies of the head and forelimbs was found near Lethbridge, Alberta. Notable gross findings inculded brachygnathia inferior, atypical incisor tooth alignment, medially folded ears, humero-radial arthrogryposis and bowing of the radius and ulna. Hematologic determinations indicated increased erythrocyte, hemoglobin and hematocrit levels. Histopathologic examination revealed mineralized spherites in the cerebellum and midbrain.

Alberta↗

PubMedDate not supplied

Trisomy 8 syndrome.

Trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent forehad, high-arched palate, low-set and/or dysplastic ears, long and slender trunk, reduced joint mobility, and deep plantar furrows. The deep furrow or longitudinal crease of the sole may be pathognomonic for the syndrome. It should be noted that it has been seen in other rare syndromes. It is recommended that a child with mental retardation and associated multiple anomalies should be subjected to a cytogenetic study in order to define the incidence of this syndrome. Differnetial diagnosis should include: Fong's syndrome, arthrogryposis and otopalato-digital syndrome. It is interesting to note that there seem to be individuals who have had no physical abnormalities and have been identified during an evaluation for repeated abortions. The above described case of trisomy 8 mosaicism was seen and treated for many years by many different specialists without an accurate diagnosis.

Abnormalities, Multiple↗

PubMed2002

[Freeman-Sheldon syndrome: clinical manifestations and anesthetic and surgical management].

We report a new sporadic case of Freeman-Sheldon syndrome. The parents were not blood relatives. The boy showed characteristic deformities of distal arthrogryposis in the hands and feet, as well as the typical features of "whistling face syndrome". In addition, the patient showed other clinical manifestations such as a large bilateral inguinal hernia and thoracic cage abnormalities. The latter abnormality led to serious episodes of bronchopneumonia that delayed the surgical repair of bilateral inguinal hernia. Knowledge of the sonographic characteristics of deformities of the extremities is essential to reach an early prenatal suspected diagnosis of Sheldon-Freeman syndrome, especially in families with a history of the syndrome. We describe the preanesthetic management, anesthetic method and surgical technique performed when the child was aged 9 months. The delay was due to recurrent episodes of bronchopneumonia.

Abnormalities, Multiple↗

PubMed2002

[Anesthetic management of an infant with Freeman-Sheldon syndrome].

We report the anesthetic management of Freeman-Sheldon (whistling face) syndrome in a two-month-old boy scheduled for lateral canthoplasty. He had features of the syndrome including blepharophimosis, hypertelorism, a flat nose, microstomia with a limited opening, micrognathia, a very short webbed neck, scoliosis and multiple arthrogryposis. He was fed with a naso-gastric tube and suffered from several episodes of aspiration and oxygen desaturation. Difficult airway and intubation were anticipated. Anesthesia was induced via a mask with sevoflurane, although mask ventilation was difficult. Direct laryngoscopy and the insertion of a laryngeal mask airway were impossible due to microstomia with the limited opening as anticipated. A naso-tracheal intubation was achieved using a fiberoptic bronchoscope via a fiberoptic mask while ventilating the lungs. The operation and anesthesia afterwards were uneventful. In the ward, he was given supplemental oxygen but with occasional desaturation episodes. Thirteen days after the operation he was found cyanotic and resuscitation was attempted but failed. Autopsy demonstrated the hypoplasia of the lungs and thorax, atelectasis and bronchitis.

Abnormalities, Multiple↗

PubMed1976

Foot deformities.

A list of syndromes that include foot deformities as part of the clinical presentation has been compiled and subdivided into a descriptive classification. A brief discussion is presented of the embryology of the foot as it pertains to and helps explain the etiology of these various anomalies. Variations in the treatment of arthrogryposis multiplex congenita and ring constrictions are described. Finally, unique foot configurations are documented, which if seen should alert the clinician to consider the diagnosis of a specific syndrome.

Abnormalities, Drug-Induced↗

PubMed1976

[Dislocation of patella also a symptom of other diseases or consequence of local primary alteration of the scelet (author's transl)].

According to a large group of patients there is demonstrated the "symptomatic" dislocation of patella. It is a part of a system-disease, especially Onycho-osteo-arthro-dysplasia. Arthrogryposis multiplex. Freeman-Sheldon-syndrome, mongolism and children with debility or imbecility. There are discussed their pathogenesis and any consequences for diagnosis and treatment.

Abnormalities, Multiple↗

PubMedDate not supplied

[Freeman-Sheldon syndrome. A case report].

A clinical case of an infant with Freeman-Sheldon syndrome, corresponding to a congenital multiple arthrogryposis with a peculiar aspect of "whistling boy" and multiple orthopedic malformations. The patient presents exceptional severity of the classic clinical manifestations of this pathology. It is the first case reported in Mexico of this rare disease. Analysis of the high risks in surgery and anesthesia of these patients and the review of the new anesthetic techniques used in Japan and North America are described.

Arthrogryposis↗

PubMed2006

[Ehlers-Danlos syndrome with concomitant joint contractures].

We present 6 children with Ehlers-Danlos syndrome (EDS) with concomitant joint contractures. In 3 of them bilateral clubfeet together with hip, and (or) knee, or wrist flexion contractures were observed. In all of them, after initial soft tissue surgery for clubfeet, reccurences were noted requiring another surgery. Clubfeet were the only manifestation of joint contractures in another 2 children. In one of them soft tissue surgery was succesful, in the second a hypercorrection was noted. One child with EDS had a recurvatum knee deformity which was succesfully treated conservatively. We speculate on two different forms of EDS with joint contractures: a mild one, in which clubfeet are the only joint contractures, and in which a soft tissue surgery may lead to overcorrection, and a severe one, with multiple joint contractures like in arthrogryposis multpiplex congenita, in which soft tissue surgery for clubfeet and joint contractures may lead to reccurences.

Adolescent↗

PubMed1990

[Multiple pterygium syndrome in children. 7 cases].

Seven children have been observed and treated for a multiple pterygia syndrome. The characteristics of this affection which is rare and mostly transmitted as an autosomal recessive, are: a growth retardation, a facial dysmorphia, pterygia resulting in flexion deformities, and anomalies of hands, feet and external genitale. But the severity of the syndrome is linked with the spine malformation, whose fusions produce severe and precocious deformities. This syndrome must be differentiated from the popliteal pterygium syndrome, whose repercussions are only functional; from the arthrogryposis multiplex congenita, whose syndrome is already complete at birth; and from the false secondary pterygia (caudal spinal agenesis, campomelic syndrome, quadriceps hypoplasia). The multiple pterygia syndrome imposes a genetic investigation and a serious observation of the spine and of the evolutive flexion deformities.

Abnormalities, Multiple↗

PubMed1990

Teratologic dislocation of the hip: review of a series of 17 cases.

Teratologic dislocation of the hip is defined as a congenital dislocation which is irreducible by gentle manipulation at birth. It is often associated with other congenital defects, the most common of which is arthrogryposis. In a series of 25 teratologic dislocations, we studied 17 dislocations that were treated and followed up for an average of 4 years and 6 months (minimum 1 year, maximum 10 years). Clinical and radiological results confirm that the treatment--mainly surgical--can give these children, even arthrogrypotic ones, a congruent and functional hip. This treatment may be recommended for bilateral as well as for unilateral teratologic hip dislocation.

Abnormalities, Multiple↗

PubMed1990

Congenital dislocation of the hip: the indications and technique of open reduction.

Open reduction will be indicated in three circumstances: failure to correct the soft tissue contracture; failure of the hip to reduce concentrically following a "Trial of Closed Reduction"; and when closed reduction is contra-indicated in a child over two and a half years or with an associated condition such as Arthrogryposis Multiplex Congenita.

Arthrogryposis↗

PubMed1988

[Unusual complications at birth in a stillborn with spinal muscular atrophy].

A report is given on a premature stillborn with severe congenital spinal muscular atrophy, arthrogryposis multiplex congenita and hydrops fetalis. During delivery the head was spontaneously pulled off. The neuromuscular disease was the cause of this unusual complication. No alterations of collagenous fibres were found by light and electron microscopy in dermis, aorta or in the Achilles tendon. The hydrops fetalis was not of immunological nature.

Arthrogryposis↗

PubMedDate not supplied

[Vertebrobasilar insufficiency of prenatal origin: a case report].

The case of a newborn presenting from birth with arthrogryposis multiplex congenita resting mainly on the legs, severe hypotonia, consciousness anomalies, clonic fits, recurrent apnea and bradycardia, absent sucking and swallowing is described. At the age 4 months a further episode of apnea and bradycardia was followed by death. The neuropathologic analysis disclosed a number of bilateral, cystic and symmetric infarcts in the thalamus and hypothalamus, spreading caudally to the tegmentum of the mesencephalon and the pons. Such distribution of lesions does suggest a vascular topography, i.e. in the territories supplied by branches of the vertebro-basilar arteries. There was light clinical and neuropathological evidence of prenatal occurrence of the vascular injuries, possibly at the end of the 7th month by a defective arterial perfusion of the fetus due to protracted menaces of premature birth. We would outline the existence and frequency of the thalamic and dorsal brain stem necrotic involvement by acute anoxia-ischemia occurring in the third trimester of gestation or at birth, and the relative peculiarity of their clinical picture.

Arthrogryposis↗

PubMedDate not supplied

[Multiple pterygium syndrome].

The authors relate about a non sporadic case of "Multiple pterygium syndrome" in a child born to consanguineous parents. Clinical features of the syndrome are: short stature, articular contractures, pterygia of the neck, axillae, elbows, facial anomalies, vertebral malformation, mental retardation. The syndrome, delineated as a distinct entity by Escobar, is a rare autosomal recessive disorder with a clinical heterogeneity, which is included within the "Arthrogryposis syndromes".

Abnormalities, Multiple↗

PubMed1987

An infant with multiple deformations born to a myasthenic mother.

An infant with multiple deformations born to a mother with untreated myasthenia gravis presented with arthrogryposis multiplex, craniofacial dysmorphism, kyphoscoliosis of the thoraco-lumbar spine, severe hypotonia, absence of the sucking reflex, and other neurological deficits. The neurological state of the infant supported the diagnosis of congenital myasthenia gravis, but the negative Tensilon test and the lack of clinical improvement after prolonged Mestinon treatment ruled out this diagnosis. We believe that the multiple deformations and reduced fetal movements are related to the maternal myasthenic environment associated with mild polyhydramnion.

Abnormalities, Multiple↗

PubMed1986

Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities. A new syndrome.

Two sisters exhibit arthrogrypotic changes in the lower extremities associated with a previously undescribed pelvic dysplasia. The pelvic dysplasia is characterized by: severe abnormalities of ossification with markedly widened triradiate cartilages; irregular, notched acetabulae; marked hypoplasia of the ilia; notching of the iliac wings; and delayed ossification of the capital femoral ossific nucleus. The elder girl has bilateral clubfeet, as well as flexion contractures of both knees. The younger girl has a right talipes equinovarus and left hip dislocation. Autosomal recessive inheritance is suggested. This distinctive syndrome should be considered in the differential diagnosis of the patient with arthrogryposis.

Arthrogryposis↗

PubMed1986

[Congenital flexure of the forelimbs in calves].

The incidence of congenital multiple arthrogryposis in newborn calves during the period from September 1982 to September 1983 was studied by conducting a questionnaire on 2,204 dairy farms in the province of Overijssel. This entity was observed on 19 per cent of the farms with Meuse-Rhine-IJssel breed and on 12 per cent of those with the Friesian-Dutch or Friesian-Dutch/Dutch-Friesian breed of cattle. Bull-calves showing normal or heavy birth weights following a normal period of gestation were mainly affected. There was a considerable difference in incidence between sires.

Animals↗