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PubMed1979

Neural tube defects in curly-tail mice. I. Incidence, expression and similarity to the human condition.

The incidence of neurovertebral defects in mutant mice of the curly-tail strain was investigated and found to be similar to that observed in the same mice twenty-five years ago. The results of breeding experiments support the hypothesis of Grüneberg that the defects in these mice are probably caused by a recessive gene, the expression of which is markedly affected by the genetic background. Selection against the curly-tail phenotype for six generations did not affect the incidence of abnormalities. A marked excess of females was found among exencephalic mice, as among humans with neural tube defects. Similarly, polyhydramnios, hydrocephaly, high levels of amniotic fluid alphafoetoprotein and distinctive, rapidly adhering cells in the amniotic fluid also occurred in these mice, as in humans. The curly-tail mice thus provide a useful model for the investigation of neural tube defects in man.

Amniotic Fluid↗
PubMed2004

Pharmacotyping of hypokalaemic salt-losing tubular disorders.

UNLABELLED: Long standing confusion exists in the terminology of hypokalaemic salt-losing tubulopathies (SLTs). SLTs are autosomal recessively transmitted and characterized by normotensive secondary hyperreninism/hyperaldosteronism with hypokalaemic metabolic alkalosis. Historically, four phenotypical variants have been described: (1) the (classic) Bartter syndrome (cBS), (2) the hypomagnesaemic hypocalciuric Gitelman syndrome (GS), (3) the hypercalciuric hyperprostaglandin-E-syndrome (HPS) or antenatal Bartter syndrome (aBS) and (4) the hyperprostaglandin-E-syndrome with sensorineural deafness (HPS + SND). The latter two syndromes are the most severe variants with antenatal manifestation with polyhydramnios and life-threatening course of salt- and water-loss. Defects in five renal membrane proteins involved in electrolyte reabsorption have been identified: In HPS-patients mutations in (1) either the furosemide-sensitive sodium-potassium-chloride cotransporter NKCC2, or (2) in the potassium channel ROMK have been identified, and (3) HPS + SND is caused by mutations in the beta-subunit of the chloride channels ClC-Kb and -Ka (named barttin), all mimicking the major pharmacological effects of furosemide with minor potassium-wasting in ROMK-patients as seen in patients treated with simultaneous furosemide and amiloride, and minor calcium-wasting in Barttin-patients resembling the combination of furosemide and thiazides. (4) cBS is caused by mutations in the chloride channel ClC-Kb with similar clinical characteristics as seen under combination of thiazides and furosemide, (5) GS is caused by mutations in the thiazide-sensitive sodium-chloride cotransporter NCCT resembling the effect of long-term thiazide administration. CONCLUSION: The combination of pharmacology and genetics suggests a new terminology for the above described SLTs: Furosemide-like-SLT for HPS caused by NKCC2-mutations, furosemide/amiloride-like-SLT for HPS caused by ROMK-mutations, furosemide/thiazide-like-SLT for HPS + SND, thiazide/furosemide-like-SLT for cBS, and thiazide-like-SLT for GS.

Bartter Syndrome↗
PubMed1988

An unexpected functional cause of upper airway obstruction.

A case of acute respiratory obstruction in the immediate postoperative period is described in a young woman who emerged from general anaesthesia after a Caesarean section for fetal distress. She had a pregnancy complicated by disabling polyhydramnios and anxiously anticipated the birth of a child with a diaphragmatic hernia, diagnosed antenatally. The cause of the airway obstruction was functional in nature as confirmed by flexible fibreoptic laryngoscopy. The diagnosis, paradoxical vocal cord motion, has to be considered as an infrequent cause of postoperative airway obstruction; its recognition and treatment are discussed. The patient did not have a history which might have indicated its possible occurrence. It is suggested that paradoxical vocal cord movement in a more mild form may be overlooked as cause for postoperative stridor and airway obstruction.

Acute Disease↗
PubMed1992

Risk factors in limb reduction defects.

Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.

Abnormalities, Multiple↗
PubMed1987

Trisomy 18 clustering in Kuwait.

Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17,318 live births, making an incidence of 4.61/10,000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.

Chromosomes, Human, Pair 18↗
PubMed1989

X-linked myotubular myopathy: clinical and pathological findings in a family.

A five-generation family with recessively inherited X-linked myotubular myopathy was investigated. Two of the affected boys, who were siblings and were verified by muscle biopsy to have the disease, died 3 days and 3 months, respectively, after birth. They showed marked hypotonus from birth, general muscle weakness and asphyxia. Three other boys, who were probably affected by the disease, had severe asphyxia and died shortly after birth. In three of the five cases there was polyhydramnios. The muscle biopsies of the two siblings revealed predominance of small fibres with central nuclei and accumulation of mitochondria in the central parts of the fibres. In one of the boys mainly the type 1 fibres were hypotrophic. The postmortem examination revealed variation in the involvement of different muscles, the anterior tibial muscle being the most severely affected. Intrafusal muscle fibres and myocardium were apparently unaffected. There was no involvement of the spinal cord. The clinical examination of two obligate carriers in the family revealed no muscle weakness but the muscle biopsy showed pathological changes including greatly increased variability of fibre size, and many fibres with central nuclei. The findings indicate that muscle biopsy is of value in genetic counselling to detect carriers although the observed changes were unspecific.

Adolescent↗
PubMed1993

Marden-Walker syndrome: case report, literature review and nosologic discussion.

The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker malformation with hydrocephalus and vertebral abnormalities. During pregnancy, there were feeble fetal movements and polyhydramnios. We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous.

Abnormalities, Multiple↗
PubMed1994

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. To define the range and frequency of complications in BWS, we have studied a cohort of 76 affected patients (two previously reported). The most frequent complications were macroglossia (97%), abdominal wall defect (80%) and birth weight or postnatal growth > 90th centile (88%). Other common features were ear creases/pits (76%), facial naevus flammeus (62%), nephromegaly (59%) and hypoglycaemia (63%). Rarer complications included hemihypertrophy (24%), moderate/severe developmental delay (4%), congenital heart defects (6.5%), polydactyly (4%), neoplasia (4%) and cleft palate (2.5%). Pre-term labour occurred in 53% and polyhydramnios in 33% of BWS pregnancies. The six deaths all occurred in babies born pre-term, three of whom had major congenital abnormalities. Five patients (6.5%) from four kindreds had an unequivocal family history of BWS, but 15 of 68 apparently sporadic cases had a relative with possible BWS (minor features only). Incomplete penetrance may lead to familial BWS being underdiagnosed.

Adolescent↗
PubMed1996

Trisomy 13/trisomy 18 mosaicism in an infant.

Cytogenetic analysis of amniotic fluid cells from a 31-week-old fetus suffering from polyhydramnios revealed that there were two cell lines, each with either trisomy 13 or trisomy 18. We studied the origin and mechanism for formation of this unique mixoploidy by tracing chromosomal heteromorphisms as genetic markers, and showed no discordance of parent-child transmission between the two cell lines in any of the heteromorphisms examined. The result indicated that the mixoploidy is not chimerism but mosaicism and that the mechanism of mosaic development is most likely due to two non-disjunctional events which had occurred independently at the two-cell stage of the zygote. A girl was born at the 38th gestational week and her clinical features were mainly those for trisomy 13. Chromosome analysis of the newborn confirmed +13/+18 mosaicism in fibroblasts from the skin and chorionic plate, while cord blood lymphocytes and chorionic villus cells showed only the +18 cell line.

Abnormalities, Multiple↗
PubMed1992

Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.

An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually died of cardiac failure following an episode of septicaemia, convulsions and aspiration pneumonia. Necropsy showed multiple cardiac rhabdomyomata and numerous cerebral germinal layer and periventricular white matter nodules. This case stresses the importance of clinical investigations and perinatal necropsy in non-immune hydrops fetalis (NIHF) in determining the causes of clinical presentation and the underlying pathology.

Female↗
PubMed1990

A fetal case with midgut volvulus.

A fetus with midgut volvulus is described. The mother had developed polyhydramnios, and the fetus was found by sonography to have dilated fluid-filled structures compressing the chest in the upper abdomen. Percutaneous aspiration of the upper abdominal mass was performed to identify the content and know whether decompressing the chest would be beneficial. The removal of meconium-stained fluid accomplished an improvement of the fetal biophysical profile. The infant was delivered by low transverse cesarean section, and survived with immediate removal of the fluid in the abdominal mass and ventilatory therapy.

Adult↗
PubMed1993

Color and pulsed Doppler ultrasonography of reversed umbilical blood flow in an acardiac twin.

Prenatal diagnosis of an acardiac twin pregnancy was performed. At 30 gestational weeks, pulsed color Doppler ultrasound revealed polyhydramnios, reversed-pulsatile blood flow in the umbilical artery and vein of the acardiac twin, and artery-artery anastomosis on the placental surface. The total cardiac dimension, maximum blood flow velocity of the ascending aorta and the pulmonary artery in the alive twin were in the normal range.

Adult↗
PubMed2000

Bartter's syndrome in pregnancy: a case report and review.

Bartter's syndrome is a rare renal tubular disorder, involving juxtaglomerular cells hyperplasia, characterized by normotensive hyper-reninism and secondary hyperaldosteronism, marked renal loss of potassium and profound hypokalaemia. Both clinical and biochemical features are heterogeneous, ranging from the incidental finding in an asymptomatic patient to marked clinical features of hypokalaemia. Inheritance is likely to be an autosomal recessive. We present a case of Bartter's syndrome complicating pregnancy in a Chinese woman. We documented an increasing demand for potassium supplement during pregnancy which stabilized by mid-trimester. The absence of pregnancy complications such as polyhydramnios indicated that the fetus was unlikely to be affected by the condition.

Adult↗
PubMed1983

Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn.

The significance of thin ribs among 26 newborns diagnosed as having neuromuscular disease is discussed. 19 had a chest X-ray. Thin ribs were observed in three of seven with congenital myotonic dystrophy, in two of four with myotubular myopathy and in one of five with spinal muscular atrophy. The ribs were normal in one case of nemaline myopathy and two cases of non-specific myopathy. Polyhydramnios was recorded in four of the six cases with thin ribs. Ventilatory support frequently was required for these infants. The observation of thin ribs on X-ray is highly suggestive of neonatal neuromuscular disease, and is neither specific for nor invariable in congenital myotonic dystrophy.

Diagnosis, Differential↗
PubMed1983

Non-immune hydrops fetalis: changing contribution to perinatal mortality.

During the decade to 1979, 203 hydropic infants died in the State of Victoria, Australia. Non-immune hydrops fetalis (NIHF) became more common than immune hydrops fetalis as a cause of fetal hydrops, and its contribution to the total perinatal mortality increased from 0.1% to 3%. The perinatal mortality rate of infants with NIHF was virtually 100%. The most consistent finding at post-mortem was pulmonary hypoplasia which was probably due to compression from serous cavity effusions. Survival may be improved by early diagnosis and termination of the pregnancy in selected patients with viable infants before the development of gross serous cavity effusions. The most constant clinical sign associated with hydrops fetalis was polyhydramnios which is an indication for ultrasonography and cardiotocography to detect cases of NIHF and to select the optimum time for delivery.

Australia↗
PubMed1985

Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases.

Forty-six hydropic infants with homozygous alpha-thalassaemia born during a period of 10 years have been reviewed. The incidence was 1:1550 total births, and accounted for 81% of all non-immune hydrops. The male to female ratio was 1:1.4. There was increased incidence of anaemia, pregnancy induced hypertension, antepartum haemorrhage, malpresentation, prematurity, fetal distress, difficult vaginal delivery, caesarean section, retained placenta, postpartum haemorrhage and congenital abnormalities. Antenatal diagnosis by DNA hybridization with subsequent abortion of the affected fetuses is the best method to decrease maternal morbidity and to reduce the incidence of hydrops fetalis in couples at risk. For those with no previous history, but with early onset hypertension and/or polyhydramnios, sonography is useful in making an earlier diagnosis, and in reducing avoidable morbidity, because DNA analysis can be done before caesarean section and aggressive neonatal management is instituted.

Adolescent↗
PubMed1988

Plasma corticotrophin-releasing factor (CRF) in abnormal pregnancy.

Maternal plasma levels of cortiocotrophin-releasing factor (CRF) have been measured in abnormal pregnancy states to assess their potential as biochemical markers for at-risk pregnancies. CRF levels were not significantly altered in patients with hydatidiform mole, polyhydramnios or diabetes. CRF levels were elevated in pregnancies complicated by accidental antepartum haemorrhage at 28 weeks (P less than 0.03) but not for the rest of the third trimester. In twin pregnancies CRF levels were significantly raised throughout the third trimester (28-32 weeks, P less than 0.01; 34-36 weeks, P less than 0.001). In patients with pregnancy-induced hypertension (28 weeks, P less than 0.001; 32-36 weeks, P less than 0.001; and 38-40 weeks, P less than 0.01), preterm labour and premature rupture of the membranes (28 weeks, P less than 0.004; 30-32 weeks, P less than 0.002; and 34-36 weeks, P less than 0.001), CRF levels were significantly raised and in some patients levels were elevated 11 weeks before the onset of signs or symptoms. These observations raise the possibility that maternal CRF measurement may be of use as a predictive indicator of certain at-risk pregnancies.

Corticotropin-Releasing Hormone↗