Cases reported "Asphyxia Neonatorum"

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1/118. Group B streptococcus infection, not birth asphyxia.

    This case illustrates 2 main points. Firstly, fetal infection can mimic exactly both the immediate and delayed signs of perinatal asphyxia. Secondly, the placenta may hold the key to the diagnosis of sepsis which may be made difficult in the neonate by labour ward practices such as the use of intrapartum and immediate newborn antibiotics. We strongly support the recommendation that newborn blood and fetal membrane cultures should always be obtained in babies with a diagnosis of 'intrapartum asphyxia and fetal distress' (1). To this we would add the recommendation that placental histology be performed in these circumstances.
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2/118. Homologous bone graft for expansion thoracoplasty in Jeune's asphyxiating thoracic dystrophy.

    adult tibial shaft from a bone graft bank was used as a solid homologous bone graft for midsternal expansion thoracoplasty in an infant with Jeune's asphyxiating thoracic dystrophy. The technique appeared successful, but the child grew out of her chest in her second year of life. Expansion thoracoplasty for Jeune's disease probably should only be reserved for children who survive their first year of life without major surgery.
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3/118. prenatal diagnosis of thoracopelvic dysplasia. A case report.

    BACKGROUND: Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. CASE: A 32-year-old woman, gravida 1, para 0, was referred at 27 weeks' gestation due to polyhydramnios. Sonography revealed hydramnios, low fetal thoracic circumference (TC) and abdominal circumference (AC) ratio (0.78), skull and skin edema, increased nuchal translucency (7 mm), micrognathia, low-set ears, left cardiac deviation (66 degrees), overriding fingers, and club and rock-buttock feet. amniocentesis revealed a normal karyotype (46, XY). Asphyxiating thoracic dysplasia was considered. At 40 weeks' gestation, a male infant was delivered vaginally. Besides the prenatal findings, cryptorchidism and high-arched palate were noted. radiography of the infant revealed a narrow, funnel-shaped thorax and small pelvis with short, flared iliac bones; poorly developed acetabulum; and small, shallow sciatic notch. No dyspnea was observed at five months postpartum. CONCLUSION: Thoracopelvic dysplasia should be considered when a low TC/AC ratio (< 0.8) is observed. In this case the final diagnosis was made after detailed exclusion of other disorders combined with observation of a small thorax. prenatal diagnosis of thoracopelvic dysplasia is possible.
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4/118. Jeune syndrome (asphyxiating thoracic dystrophy) associated with hirschsprung disease.

    We describe two children with diagnostic features of Jeune syndrome who also had hirschsprung disease. An association between the two conditions has not previously been described and has implications both for clinical management and for further study.
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5/118. Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

    Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it was recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction.
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6/118. Neonatal neurologic prognostication: the asphyxiated term newborn.

    The pediatric neurologist is often requested to predict the neurologic outcome in an uncertain situation. A common and problematic clinical setting in which this occurs is the asphyxiated term newborn. This report reviews the predictive tools available for prognostication in this situation and formulates a practical paradigm that the authors hope will improve predictive accuracy and lessen uncertainty in this setting.
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7/118. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

    Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.
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8/118. Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures.

    An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. early diagnosis and treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome.
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keywords = asphyxia
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9/118. Problems in the detection of intrapartum fetal asphyxia with intermittent auscultation.

    We present 4 cases of severe intrapartum fetal asphyxia occurring during spontaneous unaugmented labours at term in low-risk women. In each case the baseline heart rate was completely normal, and the only indication of asphyxia was markedly decreased variability detected with electronic fetal heart rate monitoring. Correct action was taken in 3 cases that probably prevented fetal death or reduced neonatal morbidity. In no case would intermittent auscultation have been able to identify the compromised fetus.
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10/118. Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings.

    The authors report a case of a lethal form of asphyxiating thoracic dysplasia (Jeune syndrome) in a newborn female with a narrow thoracic cage causing severe respiratory failure at birth. The diagnosis was unequivocally confirmed by radiographs of thorax and pelvis. This report emphasizes the importance of the radiological and sonographic features in establishing a correct diagnosis.
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