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We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome.
OBJECTIVES: Freeman-Sheldon syndrome (FSS) is a rare genetic condition with facial and joint abnormalities. Here we report the first case of prenatal diagnosis in a fetus with negative familial history for this syndrome. A chart of the fetal mouth length was generated and its usefulness verified. METHODS: A cross-sectional study was carried out to derive standard charts for fetal lip lengths. The study population was made up of 371 fetuses between 15 and 38 weeks of gestation examined only once for this purpose. A statistical analysis previously recommended to derive normal ranges in fetal growth charts was employed. RESULTS: A 34-year-old woman was referred at 28 weeks of gestation for polyhydramnios and clubfeet. A detailed scan confirmed those findings and showed joint contractures of hands, a severe microstomia with a 'whistling' mouth, and an H-shaped mark over the chin. FSS was suspected, though there was no family history for this genetic syndrome. After emergency delivery at 32 weeks, the syndrome was confirmed. The infant died two months later from pneumonia. Upon construction of a standard mouth length chart, it was found that the fetal lip width in this case of FSS was well below the 5th centile. CONCLUSION: Here we present a standard chart for fetal lip width. We demonstrated its usefulness in cases with fetal face anomalies. Specific charts are fundamental for an objective assessment of the fetal parameters.
An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.
Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.
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Among 331 animals with cleft palate in a veterinary clinic-hospital population, cats, mixed breed dogs and German Shepherd Dogs had low risk for cleft palate; high rates were seen in English Bulldogs, some small purebred dogs and Charolais cattle, where cleft palate occurred as part of a syndrome of multiple malformations. Many of the epidemiologic characteristics resemble features of cleft palate in humans and suggest animal breeds suitable for exploration as animal models for use by experimental teratologists, developmental biologists, and clinicians.
Nicotiana glauca, wild tree tobacco, induces arthrogrypotic congenital defects in piglets similar to those induced by Nicotiana tabacum, common tobacco. The present work was conducted to isolate the principal alkaloid of N. glauca, anabasine, in large quantity and good purity and to test the teratogenicity of the compound in pigs. The isolated compound was established to be anabasine and to be of suitable purity by chemical characterization. It proved to be teratogenic. Typical arthrogrypotic defects were induced in 21 of 26 offspring (three of three litters) when dams ingested 2.6 mg of the compound per kg body weight twice daily during the 43rd-53rd days of gestation. Of three dams dosed with 1.66 g/kg/day of the dried plant material during the 43rd-53rd days, one delivered deformed offspring representing one-third of all offspring in that group. These arthrogrypotic defects induced by anabasine were indistinguishable clinically from defects induced by either N. glauca or N. tabacum. In addition, anabasine at a dose of 2.6 mg/kg twice daily or N. glauca plant material at 1.66 gm/kg daily induced cleft palate in over three-fourths of offspring (100% of litters) when dams ingested either during the 30th-37th days of gestation or during longer periods that included those days.
This report concerns an amyoplasia-like condition in a case with maternal exposure to malathion during the 11th to 12th week of pregnancy. Malathion is an agent acting on the neuromuscular system. The possibility of a causal association is discussed.
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Authors report on the results of 51 quadriceps-plasties according to Bennett in the treatment of the extension contracture of the knee. The result was influenced among others by the number of the functioning muscle fibers, by the grade of the preoperative muscular contracture and the postoperative physiotherapy and by the physical and mental development of the patients. In nearly two thirds of the cases very good and good results were achieved. Special questions of the operative technique and the postoperative function are discussed.
We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.
A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.
The Pena-Shokeir syndrome is characterized by intrauterine growth retardation, camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. The condition is thought to be inherited in an autosomal recessive fashion. A detailed neuropathological analysis of the brain of a stillborn full-term male infant who exhibited the gross features of the Pena-Shokeir syndrome revealed diffuse bilateral cerebral polymicrogyria associated with multicystic encephalopathy. Abnormal brain development, which was characterized by disturbances in neuronal migration and laminar cortical organization, was clearly associated with changes of an encephaloclastic nature, namely reactive gliosis and infiltration by macrophages. These findings suggest strongly that the Pena-Shokeir syndrome may also result from teratogenic factors such as intrauterine ischemic and/or hypoxic insults to the developing brain.
An infant with the clinical syndrome of multiple joint ankyloses and facial anomalies was examined at autopsy. Neuropathologic analysis disclosed reduced numbers of spinal motor neurons and denervation atrophy of skeletal muscle as the basis for joint ankyloses. A comparison of the neuropathologic findings in this case to those to other clinically similar cases reported recently confirms that the phenotype is not specific, and occurs in a variety of neuro-muscular diseases only some of which are likely to be inherited as an autosomal recessive trait. Diagnostic evaluation of these disorders should include both chromosomal analysis and confirmation of the underlying pathologic process.
Two siblings whose clinical and pathologic features were consistent with the "Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia" originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.
Radioactively-labelled VSV, both Indiana and New Jersey serotypes, were rapidly and efficiently adsorbed onto goose erythrocytes, but only within a narrow range of pH and at low temperatures. Under optimal conditions for adsorption, both infectivity and haemagglutinating activity of VSV were reduced. A basic difference between the two serotypes was identified: adsorption and haemagglutination of the Indiana serotype were stable even at pH 9.0 and at 37 degrees C, whereas New Jersey serotype was eluted slowly at +0 degrees C and at pH 6.4 and rapidly at a higher temperature and pH. The rapid elution offers a useful method for purification of New Jersey serotype. Particle counting of VSV showed that 10 to 50 virus particles were required for one PFU. Haemagglutination was not a sensitive method for assaying small amounts of VSV; 3--20X10(7) virus particles or more than 10(7) PFU corresponded to one HAU.
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