The continued elucidation of the trisomic syndromes with their varied and complex external abnormalities has emphasized the necessity for skilled recognition of significant deviations from normal in the outward appearance of the newborn. Mongolism, trisomy 17-18, trisomy 13-15, the recognized autosomal trisomic syndromes, show an odd facial appearance and abnormalities of the hands, feet, and ears.For some time we have been aware of a number of perinatal deaths with which certain external abnormalities were so often involved that they appeared to form a distinct group. Over the past few years 20 babies of this group have been systematically photographed, subjected to detailed post-mortem examination, and chromosome studies undertaken on the more recent cases. InvestigationsThe 20 perinatal deaths comprised 8 stillbirths and 12 neonatal deaths. The longest period of survival was 18 hours. In all cases there was an abnormal facial appearance, the predominating feature being flattening of the tip of the nose. What we thought to be a significant abnormality in the ears was present in 10 of these babies ; this consisted of flattening of the ears against the head. The presence of abnormal epicanthic folds was evident in the majority. Short great toes were present in three of these cases. In addition four showed varus deformity of the feet. The hands were unusually broad in three cases, but in the remainder they were normal.The average weight of these babies was 1,350 g., with a range of 1,100-1,850 g. The gestational age varied from 27 to 35 weeks, but a correlation of the menstrual delivery period and birth weight showed no deviation from normal.Post-mortem Examination.
SUMMARY A case of intra‐uterine rupture of a neurogenic bladder in a female child with spina bifida is reported, together with the unusual histological appearances of detrusor‐muscle atrophy at the site of rupture. The literature on ruptured bladder in the neonatal period is reviewed. RÉSUMÉ Rupture congénilale d'une vessie neurologique: un cas L'article rapporte un cas de rupture intra‐utérine d'une vessie neurologique chez une fille avec spina bifida; un aspect inhabituel histologique de I'atrophie du détrusor à l'endroit de la rupture fut aussi noté. Une revue de la littérature est faite sur les ruptures de vessie à la période néo‐natale. ZUSAMMENFASSUNG Congenitale Ruptur einer neurogenen Blase: ein Fallbericht Es wird der Fall einer intra‐uterinen Ruptur einer neurogenen Blase bei einem weiblichen Kind mit Spina bifída dargestellt, bei dem der ungewöhnliche histologische Befund einer Atrophie des M. detrusor im Bereich der Ruptur erhoben wurde. Es wird eine Literaturübersicht über die Blasenruptur in der Neonatal‐periode gegeben. RESUMEN Ruptur a congénita de una vejiga neurogena: aportación de un caso Se aporta un caso de ruptura intrauterina de una vejiga neurógena en un lactante hembra con espina bífida, juntamente con el aspecto histológico inusual de una atrofia del músculo detrusor en el lugar de la ruptura. Se revisa la literatura de la ruptura de vejiga en periodo neonatal.
1141could be evaluated as even better. As the possibility for iatrogenic damage after intraarticular cortisone injections has been reported2-'i to be higher than was observed after intra-articular or especially intramuscular glycosaminoglycan polysulphate therapy it seems justified to suggest this treatment in cases of painful knee joints after sports trauma and strenuous exercise.SEPPO SANTAVIRTA
There have been a number of reports of excessive glycogen storage in liver without a defect in any of the enzymes known to cause glycogen storage disease. Protein phosphatases (types 1 and 2) are involved in the regulation of all the major biosynthetic and biodegradative pathways. Hepatic protein phosphatase type 1 inactivates phosphorylase kinase and phosphorylase and activates glycogen synthetase, which would result in increased hepatic glycogen deposition and hypoglycaemia. Protein phosphatase type 1 is also involved in the regulation of liver glycolysis, gluconeogenesis and fatty acid synthesis, and disordered regulation of these pathways wotdd compound the hypoglycaemia. CASE REPORTSMrs G. presented at 38 weeks after five days of decreased fetal movements. Nonstressed cardiotocography was unreactive with decelerations. Caesarean section delivered an infant (karyotype 46 XY) with Apgar scores of 2 and 3 at one and five minutes. At birth the infant was aglycaemic and dextrose infusion (16-25 mg/kg/min) was required to maintain blood sugars of 2.5-5 mmol/L. The infant had the following features: microcephaly (OFC 30 cm, < 3rd centile), birth weight 2.61 kg (10th centile), crown-heel length 49cm (90th centile), a small nose, a broad glabetla, large and flattened ears, underdeveloped toe nails, a central cleft of the hard and soft palate, a single transverse palmar crease on the right hand with a crazy-paving pattern on the left, and a single umbilical artery. Liver function tests were abnormal: direct bilirubin 84#mol/L (total 137#mol/L), alanine aminotransferase 74units/L (upper limit of normal 40 units/L), hypoalbuminaemia 27g/L with a total protein of 37 g/L. The infant was thrombocytopenic (25-28 x 109/L). He was in cardiac failure secondary to generalized myocardial depression, was unresponsive to treatment and died at 68 h. The brain (280 g) was slightly microencephalic with microgyria affecting several 255
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