1/22. Sprengels deformity: anaesthesia management.A 28 years old lady presented with Sprengels deformity and hemivertebrae for Fothergills surgery. Clinically there were no anomalies of the nervous, renal or the cardiovascular systems. She had a short neck and score on modified Mallapati test was grade 2. She was successfully anaesthetised using injection propofol as a total intravenous anaesthetic agent after adequate premedication with injection midazolam and injection pentazocine. Patient had an uneventful intraoperative and postoperative course.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
2/22. Severe lower limbs lymphedema of late onset revealing polysplenia syndrome--a case report.Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
3/22. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
4/22. retrocaval ureter and associated abnormalities.OBJECTIVE: To investigate the association of retrocaval ureter with other congenital abnormalities. methods AND patients: Two new cases of retrocaval ureter are discussed and a detailed electronic search of the literature was mainly focused on the concomitant abnormalities. The first of our patients had also a glandular hypospadias and a supernumerary lumbar vertebra, while the second one had syndactylia (fixed toes) in both feet. Results. The review of the literature revealed that 21% of the cases of retrocaval ureter present with concomitant abnormalities mainly from the cardiovascular system and the genitourinary tract. CONCLUSION: diagnosis of retrocaval ureter should increase the awareness of the responsible physician on the possibility of concomitant malformations where treatment could prevent future symptoms.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
5/22. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
6/22. Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?The scimitar vein "syndrome" is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to nonconsanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins, and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though five familial cases of scimitar "syndrome" have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein "syndrome" is not a "syndrome" per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
7/22. collodion baby associated with asymmetric crying facies: a case report.collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system, less frequently involving the genitourinary, musculoskeletal, cervicofacial, and respiratory systems, and rarely the endocrine system. We report a newborn with a collodion membrane and asymmetric crying facies. To the best of our knowledge, this association has not been previously published.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
8/22. Asymmetric crying facies associated with hemihypertrophy: report of one case.An infant whose face appears symmetrical at rest yet whose mouth is pulled downward to one side when crying is said to have an "asymmetric crying facies". The cause of the facial asymmetry in this disorder is congenital absence or hypoplasia of the depressor anguli oris muscle at the corner of the mouth. Associations of this minor facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and, rarely, the central nervous system. In this article, a 40-day-old boy with asymmetric crying facies associated with malformed right ear, patent foramen ovale, hemivertebrae, thoracic scoliosis, and hemihypertrophy is presented. The last anomaly has not previously been published in association with asymmetric crying facies in the literature according to our knowledge.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
9/22. Malposition of internal organs: a case of situs ambiguous anomaly in an adult.Situs ambiguous anomaly is a rarely encountered condition in clinical practice that is characterized by the presence of multiple congenital anomalies relevant to intraabdominal organs and the cardiovascular system. While this syndrome is mostly diagnosed as a serious cyanotic cardiac disease in the first year of life, only 5% may survive beyond five years of life, and it can be a diagnostic challenge. In this report, we present an adult case of situs ambiguous anomaly which was diagnosed incidentally. The patient had centrally located liver, multiple splenules, interrupted inferior vena cava with azygos continuation, and bilateral bilobed lungs. Furthermore, she had a history of an atrial septal defect operation 20 years previously. These congenital anomalies were found to be compatible with situs ambiguous anomaly (its polysplenia variant). The interesting points of this patient are that she reached an advanced age without complaint in spite of congenital heart disease, and that the diagnosis was made incidentally during routine examination.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
10/22. Cardiac and other malformations in parapagus twins.INTRODUCTION: Conjoined twins occur in one 50-200,000 live births and approximately 75% of all cases are thoracopagus twins. Parapagus conjoined twins are rare and are not included in many review articles. CASE REPORT: The cardiovascular system of a male parapagus (dicephalus, tetrabrachius, dipus) conjoined twins was studied. Twin B had bilateral bilobed lungs and a normal heart, while bilateral trilobed lungs and right isomerism was found in twin A. They shared a diaphragm and an abdominal cavity. There were two complete heads on two necks, two thoraxes, one abdomen, four arms, two legs, two complete vertebral columns, a single pelvis, and severe cardiac abnormalities.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
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