Rare Combination Of Anomalies Research Articles

Associated rare anomalies in prune belly syndrome: A case report

The triad of deficient abdominal wall musculature, undescended testes and urinary tract anomalies characterizes the Prune Belly Syndrome (PBS). PBS can be associated with other comorbid urological and non urological conditions. But the full pathogenesis and best treatment is still a matter of debate. A term newborn with a classical PBS (Woodhouse Group 2, Smith and Woodard Group 2) plus lung hypoplasia and funnel chest deformity, a megapenis with a tight phimosis and an obturated anterior urethra is presented. Unfortunately, the baby died in urosepsis and renal failure in his 3rd week of life, despite urine drainage surgery and peritoneal dialysis undertaken. According to the best of our knowledge, this is an unique combination of rare anomalies in PBS patients.

Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele

A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.

Rare Anomaly of Great Arteries

A full-term male infant was transferred to our neonatal intensive care unit because of tachypnea and mild hypoxia. Right atrium and right ventricle enlargement were suspected in the prenatal examination. Echocardiography was performed, and a rare combination of anomalies was observed. The ascending aorta and the main pulmonary artery joined together at the level of the innominate artery over the bridging vessel. The branching patterns of the pulmonary artery and the aorta were normal. There was a very small perimembranous ventricular septal defect. Computed tomography was performed to confirm the diagnosis (Figs. 1, 2). The observed combination had not been reported previously. It was not truncus arteriosus because the orifices of the pulmonary artery and the aorta were separated (Fig. 3). Two diagnoses for this rare combination were considered. The first diagnosis defines it as a variant of the aortopulmonary window. This diagnosis is not correct because the bridging part is not a window but rather a large tube. The second diagnosis defines it as a variant of the right aortic arch and the left-side patent ductus arteriosus. This diagnosis is not appropriate because the innominate artery arises from the bridging vessel. If this vessel is patent ductus arteriosus, there should not be branching. Although the diagnosis was not clear, we thought the spontaneous improvement of pulmonary hypertension could lead to systemic collapse. Ligation of the bridging vessel was performed to avoid such a situation. However, the pulmonary hypertension did not improve after surgery. The ventricular septal defect was so small that the reason for pulmonary hypertension was not clear. Catheter examination showed that although the resistance of the pulmonary artery was high, it responded to oxygen inhalation. The patient was discharged with pulmonary hypertension therapy.

Cor Triatriatum with Tetralogy of Fallot and Anomalous Drainage of Left Superior Vena Cava: A Case Report and Literature Review

Cor triatriatum is a rare malformation, especially in association with tetralogy of Fallot, and has only been reported a few times in the literature. Due to the complexity of this abnormality, careful intraoperative exploration and a good differential diagnosis are crucial to select the appropriate surgical procedure. Here, we report a case with this rare combination of anomalies, an abnormal membranous septum above the mitral valve, and anomalous drainage of the left superior vena cava. The patient was successfully treated and achieved excellent hemodynamic parameters.

An Unusual Amniotic Rupture Sequence With Thoracoabdominal Restricting Band, Low-Set Posterior Hairline, and Trapezius Contracture

Amniotic rupture sequence is associated with defects of variable severity and at different sites. Analysis of the literature reveals difficulties in the classification, which, in addition to uncertainties surrounding its causes, make diagnosis of unusual presentations rather difficult. We present an unusual case of a thoracoabdominal restrictive band from the umbilicus to a low-set posterior hairline with severe trapezius contracture, sternoclavicular dislocation, and no associated craniofacial or limb abnormalities. Amnion rupture sequence with adhesion band seems to be the most probable cause of this rare combination of anomalies.

Unusual vascular ring anomaly associated with a persistent right aortic arch and an aberrant left subclavian artery in German pinschers

The objective of this study was to describe a specific form of persistent right aortic arch (PRAA) in three German pinscher dogs and to analyse the mode of inheritance in the breed. This type of PRAA is characterised by a left retro-oesophageal subclavian artery in combination with a ligamentum arteriosum originating at the aberrant left subclavian artery (PRAA-SA-LA). This rare combination of anomalies has only been reported in two isolated cases in other dog breeds and the occurrence of any form of PRAA was not previously known to occur in the German pinscher. In the present study, 18 cases of this congenital anomaly were ascertained and their high degree of relatedness and inbreeding could be shown through pedigree analysis. Three of the affected dogs underwent further clinical investigations, and post-mortem examination (two cases) and findings at surgery (one case) verified the diagnosis of PRAA-SA-LA. A monogenic autosomal recessive mode of inheritance was not likely.

Laparoscopic Hemihysterectomy in a Case of Uterus Didelphys with Nonfused Rudimentary Uterine Horns with Functioning Endometria and Complete Cervical-Vaginal Agenesis

Abnormalities of the Mullerian system exist in a variety of forms. Conventional anomalies are easy to manage, but a rare combination of anomalies requires good clinical judgment to diagnose and manage. In this paper, we report on a 17-year-old girl with two rudimentary horns, with functional endometrium in one horn, and cervicovaginal agenesis. She was diagnosed to have vaginal agenesis 2 years prior and underwent vaginoplasty. The presence of an obstructive uterine anomaly was overlooked. She presented to us with cyclic abdominal pain 2 years later. On evaluation, a functional rudimentary horn was diagnosed and removed laparoscopically. Abnormalities in vertical fusion may rarely coexist with defects in lateral fusion and must be looked for in any adolescent with cyclical abdominal pain.

Left‐sided gastroschisis and bilateral multicystic dysplastic kidneys: a rare combination of anomalies

Left-sided gastroschisis is very rare. We report a case of left-sided gastroschisis associated with bilateral multicystic dysplastic kidneys. This combination of anomalies is unknown. The pathogenesis of gastroschisis is not well understood. It is now viewed as a malformation rather than disruption. The findings in this case support this view. The combination of dysplastic kidneys with ventral body wall defect suggests an early developmental defect.

Ebstein's Malformation of the Tricuspid Valve Associated with Valvular Stenosis and Cor Triatriatum

Ebstein's malformation of the tricuspid valve tends to occur as an isolated condition except for the common association of a patent foramen ovale. Nevertheless, several other conditions may be associated with Ebstein's anomaly. These include ventricular septal defect, 1 Vacca JB Bussmann DW Mudd VG Ebstein's anomaly: Complete review of 108 cases.. Am J Cardiol. 1958; 2: 210-226 Abstract Full Text PDF PubMed Scopus (28) Google Scholar pulmonary stenosis with or without a ventricular septal defect, 2 Schiebler GL Adams P Jr Anderson RC Clinical study of 23 cases of Ebstein's anomaly of the tricuspid valve.. Circulation. 1959; 19: 165-187 Crossref PubMed Scopus (50) Google Scholar pulmonary atresia with intact ventricular septum, 3 Caddell JL Browne MJ Right ventricular hypertension and pulmonary stenosis in Ebstein's anomaly of the heart.. Am J Cardiol. 1963; 11: 100-106 Abstract Full Text PDF PubMed Scopus (4) Google Scholar and several transposition syndromes. 4 Becu LM Swan HJC DuShane JW Cardiac clinics. CXLIV. Ebstein malformation of the left atrioventricular valve in corrected transposition of the great vessels with ventricular septal defect.. Proc Staff Meet Mayo Clin. 1955; 30: 483-490 PubMed Google Scholar Most of these anomalies are not commonly associated with Ebstein's malformation, and pulmonary valvular stenosis is rare in the absence of ventricular septal defect. 5 De Leon AC Jr Perloff JK Blanco P. Congenital pulmonic stenosis complicating Ebstein's anomaly of the tricuspid valve.. Am J Cardiol. 1964; 14: 695-701 Abstract Full Text PDF PubMed Scopus (9) Google Scholar The purpose of this report is to describe the clinical and pathologic features of a case of Ebstein's malformation associated with a rare combination of anomalies, namely, valvular pulmonic stenosis and cor triatriatum.

Thoracic duct terminating on the right side associated with aberrant retro-oesophagal right subclavian artery and truncus bicaroticus.

A case is described showing the following rare combination of anomalies: (<i>a</i>) the thoracic duct terminating on the right side at the junction of the internal jugular and subclavian veins; (<i>b</i>) the right subclavian artery arising as the last branch of the aortic arch, beyond the left subclavian artery, and passing behind the oesophagus on its way to the upper limb; and (<i>c</i>) the right and left common carotid arteries arising by a common stem (`truncus bicaroticus9) from the aortic arch. The literature on the subject is reviewed and the embryological basis for the development of these variations is discussed briefly. It is suggested that special attention be directed to the course of the thoracic duct whenever an anomaly of the branches of the aortic arch is observed.

CLOACA WITH NON-ADRENAL FEMALE PSEUDOHERMAPHRODISM

Two infants have been described who exhibited previously unreported urogenital anomalies. Both patients were female pseudohermaphrodites of non-adrenal origin who had persistent cloacae. The etiology of the anomalies is unknown. This rare combination of anomalies was recognizable clinically. If the diagnosis is made promptly, surgical correction may possibly prevent serious renal damage.