1/100. Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.We report on a twin pair presenting with atrioventricular canal defect (AVCD) with right ventricular dominance in one twin, and classic hypoplastic left heart syndrome (HLHS) in the other. According to the developmental-mechanistic approach, AVCDs belong to the group of extracellular matrix abnormalities, whereas classic HLHS is included among flow lesions. Twin pairs with congenital heart defect (CHD) generally have concordant defects by mechanistic group. The occurrence of AVCD and classic HLHS in twins or siblings has never been reported. Interestingly, hypoplasia of the left ventricle is the anatomic characteristic which unifies the discordant CHDs observed in our twins. The occurrence of CHD in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different cardiac phenotypes observed in our twins is unknown. The report of these peculiar associations may be useful to stimulate further studies and shed light on the etiology of CHDs.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
2/100. lung development in diamniotic twins discordant for complete urinary tract obstruction.OBJECTIVES: To investigate the effect of anhydramnios on the lung development of 1 twin in the presence of a normal amniotic fluid volume in its diamniotic co-twin. methods: Three sets of diamniotic twins, discordant for complete urinary tract obstruction and anhydramnios, were followed prospectively with regular ultrasound scans and after delivery. RESULTS: All 3 twins with complete urinary tract obstruction and anhydramnios died within 2 days after birth, with confirmed severe pulmonary hypoplasia. In every case the twin with a normal amount of surrounding amniotic fluid had a normal postnatal outcome. CONCLUSIONS: The observation that a normal amniotic fluid volume in one sac does not protect the anhydramniotic twin from pulmonary hypoplasia has important implications for the aetiology of the condition and for the possibility of therapeutic septostomy. These results are discussed in relation to previous human and animal studies.- - - - - - - - - - ranking = 2keywords = hypoplasia (Clic here for more details about this article) |
3/100. Early prenatal sonographic diagnosis of twin triploid gestation presenting with fetal hydrops and theca-lutein ovarian cysts.The presence of theca-lutein ovarian cysts in the early second trimester of pregnancy is highly suspicious for a complete hydatidiform molar pregnancy but can be seen in association with a partial mole. Theca-lutein cysts may occur following hormonal stimulation for assisted reproductive techniques or in association with multiple gestations. Rare causes include immune and nonimmune fetal hydrops, maternal hypothyroidism, and triploid gestations. We report a case of a monochorionic twin gestation in which prenatal sonography demonstrated multiple anomalies and hydrops in each twin and bilateral theca-lutein ovarian cysts. triploidy in both twins and a partial hydatidiform mole were confirmed at pathologic examination.- - - - - - - - - - ranking = 0.53760140418763keywords = thyroid (Clic here for more details about this article) |
4/100. In utero development of hypertensive necrotizing pulmonary arterial lesions: report of a case associated with premature closure of the ductus arteriosus and pulmonary hypoplasia.Premature closure of the ductus arteriosus (PCDA) is an uncommon defect in which pulmonary hypertension (PH) has been documented by echocardiography in patients and by direct measurement after experimental PCDA in animals. The pulmonary vascular histology in human cases has received little attention but in the few recorded observations the vessels were either normal or showed increased muscularity. We report the case of a 31 week hydropic female stillborn monozygotic twin in whom postmortem examination disclosed PCDA and hypoplasia of the lungs. Atypical plexiform lesions with necrotizing pulmonary arteritis were present. These lesions represent vascular consequences of severe pulmonary hypertension produced by greatly enhanced blood flow through a restricted vascular bed resulting from the combined effects of these two abnormalities. The findings in this case of PCDA with presumed severe PH indicate that severe pulmonary vascular changes can develop in utero and that the interval of time needed for development of such chances in secondary PH is relatively short.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
5/100. Diamniotic twin gestation discordant for renal dysplasia and oligohydramnios.Severe oligohydramnios and renal dysplasia were detected in one of diamniotic, monochorionic twins at 19 weeks' gestation. At birth (37 weeks), the affected twin had only minimal extrarenal Potter's features and mild pulmonary hypoplasia, despite severe renal dysplasia due to posterior urethral valves. The effects of virtual absence of amniotic fluid during the latter half of gestation from bilateral renal dysplasia were ameliorated by the presence of a normal co-twin and its normal amniotic fluid levels, even though the affected twin did not share the same amniotic fluid.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
6/100. triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.- - - - - - - - - - ranking = 6keywords = hypoplasia (Clic here for more details about this article) |
7/100. Early fatal pontocerebellar hypoplasia in premature twin sisters.We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.- - - - - - - - - - ranking = 5keywords = hypoplasia (Clic here for more details about this article) |
8/100. Prune-belly syndrome: therapeutic options including in utero placement of a vesicoamniotic shunt.The prune-belly syndrome (PBS) consists of abdominal wall distention with deficiency of the abdominal wall musculature, urinary tract abnormalities, and cryptorchidism. The impaired drainage of the bladder leads to oligohydramnios and pulmonary hypoplasia. We present 4 cases of PBS diagnosed by prenatal sonography. In 2 cases, vesicoamniotic shunt therapy was not indicated because of a poor prognosis based on sonographic and laboratory findings; the pregnancies were terminated. In another case, treatment was not performed because of a twin pregnancy, and the neonate with PBS died the day of delivery by cesarean section at 31 weeks' menstrual age. In the other case, vesicoamniotic shunt therapy was successfully performed, and a healthy child was delivered. Several conditions must be met for vesicoamniotic shunt therapy to have a good chance of success: the karyotype must be normal, other malformations must be excluded by careful sonographic examination, and renal function must be normal, as determined by serial analyses of fetal urine. Generally, the shunt should be inserted as early as possible.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
9/100. Prolonged QT interval and sudden infant death--report of two cases.In the two cases where infants died suddenly and unexpectedly the electrocardiogram (ECG) of a younger sibling (case 1) and of a living twin (case 2) led to the suspicion that the two infants could have died from long qt syndrome (LQTS). In case 1, a His bundle (HB) dispersion and a pronounced hypoplasia of the right external nucleus arcuatus were detected. In case 2, a severe interstitial pneumonia and an accompanying mild myocarditis were found by histology. Molecular genetic investigations of the coding regions of the genes, HERG, KVLQT1 and SCN5A gave no indication for the mutations, thus, affecting related myocardial ion channels as possible sources of inhomogeneity of repolarisation.Since a molecular genetic deviation could not yet be elaborated the possible role of related disturbance remains unknown.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
10/100. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
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