Cases reported "Abnormalities, Multiple"

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9377/9538. Difficult airway in a patient with Marshall-Smith syndrome.

    Marshall-Smith syndrome is a rare clinical disorder characterized by accelerated bone maturation, dysmorphic facial features, airway abnormalities and death in early infancy because of respiratory complications. Although patients with Marshall-Smith syndrome have several features with potential anaesthetic problems, previous reports about anaesthetic management of these patients do not exist. We present a case, in which severe hypoxia developed rapidly after routine anaesthesia induction in an eight-month-old male infant with this syndrome. After several unsuccessful attempts the airway was finally secured by blind oral intubation. After 2 weeks, laryngeal anatomy was examined with fibreoptic laryngoscopy which revealed significant laryngomalacia. laryngoscopy was performed without problems with ketamine anaesthesia and spontaneous breathing. The possibility of a compromised airway should always be borne in mind when anaesthetizing patients with Marshall-Smith syndrome. Anaesthesia maintaining spontaneous breathing is safest for children with this syndrome. If tracheal intubation or muscle relaxation is required, precautions are needed to maintain a patent airway. Muscle relaxants should possibly be avoided before intubation. (+info)

9378/9538. prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.

    Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes. (+info)

9379/9538. Drop episodes in coffin-lowry syndrome: exaggerated startle responses treated with clonazepam.

    A 16-year-old girl had fully manifested coffin-lowry syndrome and drop episodes. Her drop episodes were precipitated by sudden unexpected tactile or auditory stimuli associated with the electrostatic circumstances in her leg muscles immediately after the stimuli. Studies revealed that her drop episode symptom was an unusual type of startle response and that it may be associated with coffin-lowry syndrome. (+info)

9380/9538. Perinatal management of congenital complete atrioventricular block: report of nine cases.

    BACKGROUND: The addition of fetal ultrasonography has allowed the prenatal diagnosis and observation of congenital complete atrioventricular block (CCAVB). Thus, the management of the affected fetuses should be modified accordingly. methods: The medical records were reviewed to identify patients with CCAVB, and clinical and laboratory data were collected. RESULTS: Nine patients with CCAVB, diagnosed prenatally, were identified. The gestational age at the time of diagnosis ranged from 18 to 38 weeks (median, 25 weeks). The gestational age and birthweight ranged from 29 to 41 weeks and from 1420 to 4075 g, respectively. An accompanying congenital cardiac anomaly was noted in three cases, including one with polysplenia syndrome. The heart rate at birth ranged from 30 to 80 bpm. In three neonates, isoproterenol was given for bradycardia. One fetus with hydrops fetalis associated with complex heart disease was treated with maternally administered digoxin, with resolution of the fluid accumulation. A permanent pacemaker was implanted in six cases: two within 1 day of birth; two during the neonatal period; one at 51 days; and the other at 2 years and 11 months of age. There were no deaths or major complications and all have remained well beyond their infancy. CONCLUSIONS: With the improvement of diagnostic methodology, more cases with CCAVB, including those with complex heart disease, could be diagnosed during fetal life. Their outcome has been steadily improving with the advances in perinatal management, pacemakers and implant techniques, irrespective of associated structural cardiac defects. (+info)

9381/9538. In utero nephropathy, denys-drash syndrome and Potter phenotype.

    We report an unusual case of denys-drash syndrome presenting in a newborn infant with end-stage renal failure of antenatal origin and Potter phenotype. dna analysis showed a novel missense change in arginine 394 of zinc finger 3 of the WT1 gene. This mutation may lead to an earlier and more severe presentation of denys-drash syndrome. It may be of interest to look for this mutation in other Potter phenotype cases. (+info)

9382/9538. Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome?

    A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues. (+info)

9383/9538. Infantile XX male: a case report.

    A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism of Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized. (+info)

9384/9538. Multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects: An autosomal recessive disorder.

    A new syndrome is described, affecting four persons in one family; it includes multiple non-erupting teeth with cementum defects, hypoplasia of the alveolar process and the maxillo-zygomatical region, genua valga and ear deformities. An autosomal recessive trait could be ascertained. (+info)

9385/9538. A familial syndrome of cranial, facial, oral and limb anomalies.

    A family is described in which two male infants have microcephaly, abnormal ears, anti-mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and normal karyotype. This seems to be a new syndrome. (+info)

9386/9538. Cardiac regression sequence: reversal of blood flow is diagnostic but not causative in an acardiac fetus.

    In 1% of monozygotic twin pregnancies, one fetus is without a heart; blood circulation is maintained by an accompanying "pump" twin. Such an acardiac condition is usually diagnosed on the basis of further malformations visible by ultrasonography. We describe a monoamniotic twin pregnancy with early growth reduction in one twin. His skeleton and the shape of the body including the head were normal; however, heart, lungs and liver were absent. "death of one twin" had thus been the diagnosis before termination of pregnancy. Studies of the blood flow in acardiac fetuses by several investigators have shown that perfusion of a heartless fetus is opposite to the normal direction and the term "twin reversed arterial perfusion sequence" has been proposed. While "reversed arterial perfusion" might be a key diagnostic element for the ultrasonographic examination of the acardiac condition, it need not necessarily be the primary cause. A lethal defect in early heart development is much more likely to be the primary event which is temporarily rescued by the presence of the accompanying "pump" twin. A term like "cardiac regression sequence" would be much better suited to describe the condition. (+info)
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Last update: April 2009