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PubMed1982

[Children of epileptic mothers (author's transl)].

A study of 115 children born to epileptic mothers treated during pregnancy showed a 6.9% increase in congenital malformation risk: 3 cleft lip-palate, 4 congenital cardiopathy and 1 arthrogryposis. The study also confirmed that these children were at risk of drug impregnation or withdrawal, dysmorphism with wide anterior fontanelle, and haemorrhage. The latter can be prevented by giving the mother vitamin K1 during the last weeks of pregnancy. The most characteristic finding was a high incidence (31%) of small head circumference at birth, frequently associated later with impaired somatic and psychomotor development during growth.

Abnormalities, Drug-Induced↗
PubMed1982

[Rigid-spine syndrome in a female patient (author's transl)].

A case of rigid spine syndrome in a woman is reported. There were a diffuse myopathic process, with atrophy and mild weakness not involving the face and a major rigidity of the spine. Contractures were present as well as a pure restrictive respiratory failure. Heart-rythm disorders and prolapse of the mitral valve were present. Histological features of a deltoid muscle biopsy were slight necrosis, lack of fibrosis and major disproportion in fiber-types. There were a high rate of fiber I and absence of fiber IIB. This case was similar to others described as Dubowitz's rigid spine syndrome. The histological features belonged to the second neuropathological group of cases, with disproportion in fiber-types. The rigid spine syndrome may be considered as a clinically definite disease and distinguished from other myopathies with orthopedic deformations. It should not be confused with arthrogryposis multiplex. The disease is probably autosomic recessive.

Adult↗
PubMed1980

[Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity].

Three cases, a female and two males, with the diagnosis of Ullrich syndrome are presented. Major clinical findings included congenital hypotonia, joint contractures, high-arched palate, prominent calcaneus, scoliosis, hyperhidrosis and normal intelligence. The course was not progressive or even underwent slow improvement. Our cases followed the autosomal recessive pattern of inheritance. Muscle enzymes were all within the normal ranges. EMG showed findings that were consistent with a chronic myogenic pattern. Muscle biopsy revealed variation in the size of muscle fiber diameters and large increase of the connective tissue without evidence of dystrophic changes. We consider Ullrich syndrome as a nonspecific muscle disturbance of unexplained nature, related, but not identical, to both congenital muscular dystrophy and myogenic type of arthrogryposis multiplex congenita.

Calcaneus↗
PubMed1978

The growth of akabane virus in chicken embryos.

Akabane virus produced either death or developmental abnormalities including arthrogryposis in chicken embryos inoculated by the yolk sac route when four days old. The effects depended on the dose of virus. Yolk sac inoculation of seven-day-old embryos did not result in abnormal embryos, but some chickens were viraemic when they hatched. Inoculation of older embryos intravenously, into the allantoic cavity, or onto the chorioallantoic membrane had no effect on the embryo and akabane virus was not recovered.

Animals↗
PubMed1980

[Congenital muscular dystrophy].

Four patients with typical signs of congenital muscular dystrophy (C.M.D.), as described in the literature, are reported. In two young sisters born from consanguineous parents the presenting signs were severe congenital hypotonia in one and hypotonia with arthrogryposis in the other. The two other cases were adult patients with a long standing disease, the onset haring been marked by a transient neonatal hypotonia in one and by a congenital torticollis in the other. All 4 patients had progressively increasing muscle retractions, with absent reflexes in three. C.P.K. was moderately increased in all patients. Electromyography demonstrated myopathic abnormalities in 3 cases, associated in 2 cases with misleading pseudo-neurogenic signs. MUscle biopsy showed non specific changes compatible with muscular dystrophy: fibrosis and/or fat involution was marked in all cases, while necrosis of fibers was rarely observed. Histoenzymology and morphometry confirmed the absence of lesion specificity and their results were variable from case to case. A review of 92 published cases demonstrated that the course of the disease is very variable. A fatal outcome occurs in 15% of cases, while the affection becomes worse or remains stable with about the same frequency. A progressive worsening of muscle retractions is a characteristic finding in C.M.D. Genetically, most cases are of recessive autosomic. The current nosology of C.M.D. is probably inadequate, the clinical picture including cases that are likely to be due to different mechanisms that 2 present methods of investigation cannot demonstrate.

Adult↗
PubMed1980

[The clinical course of injection injuries to the peripheral nerves in young infants and their rehabilitation].

The article presents clinical descriptions of 63 injectional injuries of peripheral nerves in children aged from 0 to 6 years. The sciatic nerve was damaged in 59 of them. More profound clinical manifestations were registered on the side of the fibular portion. Differential diagnosis is given in congenital club foot, arthrogryposis, infectional damate of nerve trunks, congenital hemiparesis. Catamnesis was followed in 48 children. The timely and complex treatment gave full recovery of foot function in 14 children, in 28 children partial recovery was noted. In 6 children the function was not repaired.

Child, Preschool↗
PubMed1995

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7-6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).

Adolescent↗
PubMed1994

[Neonatal trismus].

BACKGROUND: Trismus is caused by sustained contraction of the jaw-closing muscles. It is rare in the neonate and can be a part of developmental defects. PATIENTS AND METHODS: Twenty-four neonates, aged 1 to 12 days, were admitted from 1980 to 1992 because they suffered from trismus. All of them had severe difficulties of sucking and/or swallowing, some (12/24) had repeated episodes of apnoea requiring tracheotomy. Specialized investigations included transcutaneous PO2 and PCO2 monitoring, polygraphic recordings during sleep, 24-hour Holter monitoring, ocular compression test, barium swallow, manometry and 24-hour pH monitoring of the distal esophagus, electromyography of muscles involved in swallowing and several imaging techniques. RESULTS: Twenty-one patients had anomalies of the facies and brain stem dysfunctions. They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, cleft palate and glossoptosis, as Hanhart syndrome (four patients) and Moebius syndrome (three patients). The last three patients had arthrogryposis (two patients) and Stuve-Wiedeman syndrome. Twenty-two of 24 patients had severe gastroesophageal reflux, 15 of 20 had increased vagal reactivity and five of 24 had anomalies of the central nervous system. Eight patients died during the first year of life. CONCLUSION: Neonatal trismus is a poor prognostic sign, requiring specialized investigations and frequently resuscitation techniques.

Brain Stem↗
PubMed1993

An additional case of pachygyria, joint contractures and facial abnormalities.

Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears to be an additional lethal case. This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus contractures of the hands and feet, small palpebral fissures, hypertelorism, a small penis, cryptorchidism, camptodactyly and a sandal gap deformity. These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and facial dysmorphism, which we propose to call the Winter-Tsukahara syndrome.

Abnormalities, Multiple↗
PubMed1993

Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991.

The methods of the Danish Bovine Genetic Disease Programme are outlined, and the results obtained during the first 3 years in function are described. The most common disease reported was spinal muscular atrophy in calves of the Red Danish Dairy breed with 312 reports. Necropsy was performed on 162 cases, and spinal muscular atrophy was diagnosed in 82 of these. Bovine progressive degenerative myeloencephalopathy, rectovaginal constriction, syndrome of arthrogryposis and palatoschisis, hereditary chondrodysplasia (2 different types), syndactylism, epitheliogenesis imperfecta, and osteogenesis imperfecta was diagnosed with 1 case each. Lethal trait A46 was diagnosed in 4 calves. Some of these diseases have not previously been described in Denmark, and epitheliogenesis imperfecta was for the first time diagnosed in the Hereford breed. Chromosome translocation 1/29 was detected in the Blonde d'Aquitaine (BAQ), Limousine, and Red Danish Dairy breed. The aberration occurred frequently in BAQ. Furthermore, a complex chromosome translocation t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed.

Abnormalities, Multiple↗
PubMed1996

[A child with hyperpyrexia syndrome and multiple organ failure caused by and an orthopedic corset].

A 4-year-old boy who each night was placed in an orthopaedic corset because of congenital multiple arthrogryposis developed heat stroke with hyperpyrexia and multiorganic failure in a hot summer. Treatment consisted of administration of fluids, antibiotics and anticonvulsive agents; the child recovered completely. In children who are sick and have fever, the use of such corsets should temporarily be suspended.

Body Temperature Regulation↗
PubMedDate not supplied

Congenital dislocation of the knee reduced spontaneously or with minimal treatment.

Six cases of congenital dislocation of the knee (CDK) reduced spontaneously or with minimal treatment were investigated. Reduction was achieved from 4 days to 3 months after birth. Clinical results were good, although in four cases, hyperextension < or = 20 degrees persisted. In view of the perinatal complications and associated anomalies, CDK reduced with no or minimal treatment is supposed to be a category of congenital postural deformity. We believe that it is advisable to wait 1 month for spontaneous reduction of CDK in cases not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome.

Child↗
PubMed1997

Heterogeneity in adducted thumbs sequence.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

Abnormalities, Multiple↗
PubMedDate not supplied

[A rare cause of polyhydramnios: Steinert's syndrome. A clinical case report].

Steinert's syndrome is a systemic disease with autosome mother-to-child transmission, characterized by myotonia and muscular dystrophia. The syndrome's clinical characteristics include: respiratory and alimentation diseases, facial diplegia, generalized hypotonia, areflexia, atrophy, arthrogryposis, hydramnios, retard in psychomotor development, cataract and genital disorders. A case of pregnancy occurs in Steinert syndrome's patient with hydramnios as a predominant symptom, is presented. At birth, in the congenital neonatal form, there is grave, generalized hypotonia which causes a very quick death of the newborn. There are not many characters which can be found out by ultrasound: hydramnios, reduction of fetal tone and active movements, micrognathia. Consequently it is of the utmost importance in those cases an adequate prenatal genetic counseling and a correct obstetrical management.

Abnormalities, Multiple↗
PubMed1998

Congenital clasped thumb.

Congenital clasped thumb is a disorder characterized by flexion posture of the thumb secondary to extensor side underdevelopment, flexor side tightness, or both. Mild cases may be treated by splintage whereas more advanced cases require tendon transfer or a combination of tendon transfer and flexor side releases. Clasped thumb can be seen in conjunction with syndromes such as arthrogryposis and, in these cases, recognition of the abnormal anatomic structures is required to effect satisfactory reconstruction.

Child↗
PubMedDate not supplied

Muscle and tendon size relationships in a paralyzed chick embryo model of clubfoot.

Clubfoot is a birth defect that may be related to muscle weakness or imbalance. The purpose of this study was to examine the relationships among muscle and tendon size and embryonic motility in a paralyzed chick embryo model of clubfoot and arthrogryposis. Decamethonium bromide, a neuromuscular blocking agent, was administered to a series of embryos in five dosage groups, producing a cohort of embryos with various degrees of paralysis and atrophy of tendons and muscle. Embryonic movement frequency was monitored, and after death in late gestation, the cross-sectional areas of the calf musculature and the gastrocnemius tendon proximal to the ankle were measured histologically. Significant correlations were found between embryonic motility and both muscle (r2 = 0.52) and tendon (r2 = 0.77) areas. In addition, a significant correlation (r2 = 0.74) was found between muscle and tendon areas, suggesting that a measurement of one may be used to predict the other.

Animals↗
PubMed1998

[Why and how to examine the newborns' hips?].

The authors insist on the importance of a careful clinical examination of newborn's hips, and on the necessity of an early diagnosis of congenital hip dislocation, in order to optimize the probability of therapeutic success. They don't consider hip dislocations resulting from neuromuscular diseases or from complex malformations (e.g. arthrogryposis) included in a wider context with very different prognosis and treatment.

Decision Trees↗