21/397. Body stalk anomaly in monozygotic twinning: a case report.We describe a case of concordant body stalk anomaly in a monozygotic twin. autopsy of the fetus showed abnormalities compatible with the maldevelopment of embryonic folding. Abdominal viscera were in a sac covered by the amnion and were attached directly to the placenta. The anus was not visible and no discernible external genitalia were noted. Other findings included a neural tube defect and a rectal duplication as an enteric cyst. umbilical cord had only one vein and an artery. No abnormalities were found on pathologic examination of the placenta. Although we encountered cases previously with gastroschsis and omphalocele, this was the first case of body stalk anomaly that we recognized as an enteric cyst, which is extremely rare in twins.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
22/397. Bifurcation of the left superior pulmonary vein, associated with an anomalous connection with the left atrium.An unusual case of bifurcation of the left superior pulmonary vein (LSPV) just before it enters the pericardium is described. The LSPV, which at the hilus of the lung originated from normal confluence of a superior and inferior root, bifurcated near the left atrium (LAt) of the heart into anterior (AB) and posterior (PB) branches that, separately invaginating the parietal pericardium, formed two individual serous sheaths. The PB coursed almost horizontally and opened, as usual, into the supero-dorsal wall of the LAt. The AB turned downward, reached the superior margin of the left auricle (LAu) and emptied into it. Thus, the AB was interposed between the pulmonary trunk and the LAt obstructing on the left side the communication between the transverse sinus of the pericardium and the pericardial cavity. The auricular opening of the AB was avalvular, but, unlike those of the normal pulmonary veins (PVs) which are surrounded by a large smooth inner surface, was, except for a narrow smooth-walled zone, close to the pectinate muscles. Moreover, an inferior muscular ridge at the inferior margin of its orifice of entrance into the LAu, separated it from the cavity of the LAt. It is well known that in development the PVs arise from convergence of capillaries belonging to the mediastinal part of the primitive splanchnic plexus and drain this into the systemic (cardinal and vitello-umbilical) veins of the embryo. As a consequence, it might be hypothesized that the AB of the LSPV probably represents a partial remnant either of a pulmonary-cardinal anastomotic mediastinal vein, or of a diverging vessel of the mediastinal plexus from which the PVs originate. In either case the AB became absorbed by the LAu, which, while it was developing on the left side of the primitive truncus arteriosus, drew the AB forward and downward, in the direction of its movement. The influence of such an anomaly of the PVs for altered intracardiac hemodynamics of the oxygenated blood flow has to be emphasized. Furthermore, the particular location of the AB, obstructing the communication between transverse sinus and pericardial cavity, can be a hindrance during cardio-pulmonary surgery.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
23/397. Absence of the common carotid artery in a patient with a persistent trigeminal artery variant.We found the present case when retrospectively reviewing the files of patients with intracranial aneurysm in our institution. It concerns the coexistence of a rare developmental anomaly of the aortic arch vessels and a persistent carotid-vertebrobasilar communication variant. Since no common embryologic basis is known, this association was probably fortuitous. Each of these particular anomalies can pose unique diagnostic and therapeutic difficulties. Rossitti, S. and Raininko, R. (2001). Clinical Radiology56, 79-81.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
24/397. Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord.Limb-body wall complex (LBWC) is a rare, sporadic, congenital defect defined as a combination of at least two of three characteristics: 1. limb defects, 2. anterior body wall defects, and 3. exencephaly or encephalocoele with/without facial clefts. Three pathogenic mechanisms have been proposed: early amnion rupture, vascular disruption and embryonic dysgenesis. In this study we carried out the pathological evaluation of four fetuses with LBWC and their placentas. None of the cases had craniofacial defects. Three fetuses showed an abdominal wall defect with eventration of abdominal organs, cloacal exstrophy, absent external genitalia, abnormal internal genitalia, scoliosis and lower limb defects. One fetus showed failure of closure of both thoracic and abdominal walls with ectopia cordis, evisceration of left lung and abdominal organs, severe reduction defect of left arm, but normal colon, anus, bladder, genitalia and lower limbs. All cases had a short, malformed umbilical cord, incompletely covered by amnion. The umbilical vessels were embedded in an amniotic sheet which connected the skin margin of the anterior body wall defect to the placenta. These anomalies suggest an abnormal body stalk development as a pathogenic mechanism for LBWC. Prenatally, the abnormal fetoplacental attachment can be detected ultrasonographically by the end of the first gestational trimester. Postnatally, the examination of placenta, umbilical cord and membranes is crucial in confirming the diagnosis of LBWC.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
25/397. Split cord malformation and neurenteric cyst--case report and a theory of embryogenesis.A rare case of split cord malformation with neurenteric cyst is presented. The clinical, radiological and surgical findings are presented, and the possible embryological basis is discussed. To our knowledge, only seven such cases have been reported in the literature.- - - - - - - - - - ranking = 5keywords = embryo (Clic here for more details about this article) |
26/397. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 4keywords = embryo (Clic here for more details about this article) |
27/397. High maternal fever during gestation and severe congenital limb disruptions.Hyperthermia is defined as a temperature of at least 1.5 degrees C over the normal core body temperature. It is a proven teratogen in animals and in humans. The type of defects induced by hyperthermia in experimental animals are: anencephaly/exencephaly, encephalocele, microphthalmia, arthrogryposis, abdominal wall defects, limb deficiencies, embryonic death, and resorption. In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, hirschsprung disease, mobius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions. We describe an additional case with severe limb deficiencies whose mother had fever over 39 degrees C for 2 days in the second and in the fourth month of amenorrhoea. We conclude that, based on the degree of development of the humeri and the femora and the type of limb deficiencies, this case presents a disruption that most probably occurred in the fourth month of gestation.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
28/397. Bilateral choanal atresia associated with nasal dermoid cyst and sinus: a case report and review of the literature.The relationship of choanal atresia to various systemic malformations is well acknowledged by the CHARGE acronym: colobomas, heart defects, atresia choanae, retarded growth and development, genito-urinary defects, and ear defects. In the past, we have reported the finding of an isolated skull base malformation associated with choanal atresia. We report here a unique case of choanal atresia associated with a patent foramen cecum and intracranial extension of a dermoid sinus. The embryogenesis of this condition is accounted for by the mesodermal flow theory of choanal atresia formation, and implies a need for thorough imaging of the anterior skull base in cases of bilateral atresia.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
29/397. Origin of the left pulmonary artery from the aorta: embryologic considerations.We observed a case of anomalous origin of the left pulmonary artery from the aorta in which the media of the abnormal vessel and the main pulmonary artery were fused, but without communication. This is the fifth isolated case of repair without the use of cardiopulmonary bypass reported in the literature. This pathology should be included in the aortic arch anomalies as a partial or complete failure of development of the left sixth arch.- - - - - - - - - - ranking = 4keywords = embryo (Clic here for more details about this article) |
30/397. CNS findings in iniencephaly: case report and literature review.A male iniencephalic foetus of about 25 weeks gestation is described. The baby was born to a 22-year-old mother, who presented with abdominal pain of 1 day duration. An ultrasound scan at that time showed multiple foetal anomalies and the pregnancy was terminated. A stillborn baby was delivered. At autopsy, characteristic findings of iniencephaly were seen in the dysmorphic foetus as well as multiple structural abnormalities. The autopsy results, with emphasis on the neuropathological findings, are described and various hypotheses of the pathogenesis of iniencephaly are discussed with reference to theories of embryological development and other cases in the literature.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
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