1/28. Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident?An unreported coincidence of malformations has been studied by anatomical dissection in a mature male fetus. Auxiliary, this fetus was examined by computed tomography and the skeletal malformations were three-dimensionally reconstructed. The organs of the thorax as well as of the abdomen showed a visceral inversion. In the lumbar region, a hyperkyphosis was detected in addition to a split-notochord. A hydrocephalus internus with enlarged lateral ventricles and an agenesis of the corpus callosum were apparent. The lower extremities were dystrophic with both showing a talipes equinovarus-deformation. Following the case report, we discuss if this is coincidental or manifestations in consequence of one defect.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/28. Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy.OBJECTIVES: To present the complications of a twin pregnancy after first trimester myomectomy and to discuss the possible etiologic relationship. CASE REPORT: A 44-year-old primigravida with a dichorionic-diamniotic twin pregnancy underwent myomectomy in another hospital at 12 weeks' gestational age. At 28 weeks the patient was referred to our unit because of ventriculomegaly and limb anomalies in the second twin. The patient underwent a Caesarean section at 37 weeks of gestation delivering twin A, a healthy female weighing 3235 g and twin B, a female weighing 2810 g with hydrocephalus and limb anomalies (clubfeet and hypoplasia of the nails and terminal phalanges). The placenta from twin A was normal, but in the placenta of twin B haemorrhage, thrombosis and infarction were noted. CONCLUSIONS: Despite several reports of myomectomy in pregnancy without any problems for mother and fetus, the authors believe that myomectomy - especially in the first trimester - may be associated with the type of problems observed in the present case. The pathophysiological relationship between placental trauma and haemodynamic alterations as a possible cause of the malformations in twin B is discussed.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
3/28. A patient with the Larsen syndrome.A child with the Larsen syndrome is described. His multiple malformations included a flattened nasal bridge and other unusual facial features, a cleft palate, a poorly developed larynx and dislocations involving several joints.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
4/28. Femoral-facial syndrome with malformations in the central nervous system.The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.- - - - - - - - - - ranking = 2.2874971011316keywords = malformation, nervous system (Clic here for more details about this article) |
5/28. Congenital annular constrictions due to amniotic bands.Amniotic bands which become involved with fetal parts, especially the extremities, are produced by rupture of the amnion during pregnancy with the consequent union of the extra-embryonic mesoderm in fibrous strings. An infant with the amniotic band syndrome, in whom an annular constriction of the left leg and right hand was found, is described. He was treated successfully by multiple Z-plasties and a plaster cast to correct the clubfoot. The oedema of the leg persisted for 5 weeks and then subsided completely. The role of amniotic abnormalities in the production of congenital malformations is reappraised. The microscopic and histological investigation of the placenta and membranes should accompany every case of fetal malformation in abortuses, stillbirths, and affected newborn.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
6/28. Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients.We describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri-Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996.- - - - - - - - - - ranking = 2.5keywords = malformation (Clic here for more details about this article) |
7/28. Clubfeet associated with hydrocephalus: new evidence of gradual dynamic development in utero.clubfoot, a relatively frequent congenital malformation, may be associated with several genetic syndromes or other malformations, or may appear as an isolated idiopathic anomaly. We describe the intrauterine development of clubfeet subsequent and in parallel to fetal hydrocephalus formation, as followed by serial transvaginal sonographic scans at 11-16 weeks' gestation. The possibility of a causal relationship between the central nervous system malformation and the clubfeet is suggested. To the best of our knowledge, this is the first description of the dynamic, in vivo fetal development of hydrocephalus and clubfeet at 11-16 weeks' gestation.- - - - - - - - - - ranking = 1.5574994202263keywords = malformation, nervous system (Clic here for more details about this article) |
8/28. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
9/28. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. Although bleeding caused by abnormal glycosylation of various coagulation factors is a well-known clinical complication of several types of congenital disorders of glycosylation, intracranial hemorrhage has not been reported as an initial manifestation of this entity. Here we report the detailed history of a family with 2 consecutive male infants, both born at term with intracranial hemorrhage diagnosed within the first 24 hours of life. The diagnosis of a congenital disorder of glycosylation was established in the second infant by an abnormal glycosylation of serum transferrin detected by electrospray-ionization mass spectrometry. Both infants showed significant neurologic deterioration during the first month of life, and both died at 5 months of age. Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
10/28. Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.We report a 9-month-old female infant presenting, on the 15th day of life, left tibial agenesis with ectrodactyly, right talipes equinovarus, syndactyly of the second and the third toes of the right foot, an incomplete split right foot, left fibular hypoplasia, bronchial stenosis/hypoplasia, and coarctation of the aortic arch. To the best of our knowledge, coarctation of the aortic arch and bronchial stenosis/hypoplasia have never been reported in the tibial agenesis-ectrodactyly syndrome.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
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