Articles Related to Congenital

Bilateral choanal atresia is a rare congenital malformation, which causes asphyxia neonatorum rarely compatible with life, making this pathology a diagnostic and therapeutic emergency. We report a very rare case of bilateral choanal atresia in a girl who survived to the age of 6 without neonatal care, and we discuss the clinical, endoscopic, radiological aspects and the treatment of this condition

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Congenital anorchia is an uncommon clinical condition. Etiology and pathogenetic mechanisms are often unknown. Although some patients with anorchia present with ambiguous external genitalia or micropenis, most have a normal phenotype. XY Disorders of Sex Development classifications are numerous and success rate in establishing a precise diagnosis is far lower than in XX karyotype.

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Laminin β2 (LAMB2) gene mutation typically causes a rare autosomal recessive inherited disorder called Pierson syndrome (PS) that present in the neonatal period and progressively affecting renal and ocular functions in the form of congenital nephrotic syndrome (CNS) combined with bilateral microcoria.

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Congenital malformations can go unnoticed and have an impact on morbidity and mortality in early stages of life being a cause of infant death in some countries [1]. Malformations of the gastrointestinal tract occupy the second place among congenital abnormalities [2]. Along with them, the enteric duplication cyst is an infrequent anomaly difficult to diagnose specially for a non-specialist physician that is not use to attend this kind of pathologies or in hospitals where patients with this entities are infrequent. We present the case of a 5-month-old patient who underwent intestinal resection due to enteric duplication cyst.

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Congenital heart disease is the most common congenital disorder in newborns represents a major cause of perinatal death. The prevalence of these malformations is still unrecognized in Tunisia because of the lack of a national register. The aim of this study was describe the epidemiological and clinical aspects of the heart diseases with neonatal diagnosis in Tunisia.

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A 36-year-old woman pregnant, G2 P1, presented at 27 weeks of gestation after two previous visits elsewhere, as an outpatient in a gynecological clinic. An ultrasound examination revealed bilateral hydronephrosis. Also, ureteral dilation and bladder overdistension was present (Figure 1, 2 and 3). We evaluated that the cause was a urinary tract obstruction. Specifically, we are dealing with posterior urethral valves. The anteroposterior diameter of the pelvis on a transverse view of the abdomen was 6 mm. The amniotic fluid index (AFI) was 3 cm, so, oligohydramnios. Fetal Biometry responds to the 27th week of gestation. The sex of the fetus was male. Following identification of urinary tract dilation, a detailed anatomic scan was performed to exclude the presence of associated extra-renal anomalies

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Foreign body ingestion and aspiration commonly affect children. The most vulnerable age is early childhood when children tend to explore new objects with their mouths or by an accident by elder siblings. A 2-year-old female child who is known to have congenital hypotonia, status post laparoscopic fundoplication and gastrostomy tube feeding (G- tube) inserted at age one year. Then she was in stable condition till when presented with acute unexplained drooling of frothy whitish secretions, mild cough and difficulty breathing with hypoxemia. X-ray chest and upper abdomen revealed normal. She underwent flexible bronchoscopy revealed normal and then direct laryngoscopy was extracted a covering plastic of the feeding tube in the upper end cervical oesophagus by Magill forceps technique. Subsequently her symptoms resolved completely. To increase the likelihood of identifying foreign body ingestion and aspiration, healthcare professionals should maintain a high index of suspicion even in children with neuromuscular disorder.

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Thoracic ultrasonography has been used to evaluate pulmonary parenchyma and the macrocystis of the lung in a preterm with congenital cystic adenomatoid malformation type I. The images gained have been important for diagnosis and therapeutic strategies in our case. An infant was prematurely born with congenital cystic adenomatoid malformation type I. The chest X-ray and computerized tomography showed a great opaque area in the entire right lung, we considered performing a pneumonectomy. This opaque area hampered the expansion of left lung. After draining the macrocystis by ultrasonography-guided puncture, it was possible considering and performing the lobectomy due to the reduction of the volume of macrocystis. During follow up at 4 months, the infant did not show complications and the chest X-ray revealed the reduction of volume of the dense area in parenchyma of right lung.

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Causes of vitamin B12 deficiency in children include decreased intake, abnormal absorption, and inborn errors of B12 transport and metabolism. Rare causes of abnormal cobalamin absorption include Imerslund-Grasbeck syndrome (IGS) and intrinsic factor deficiency (IFD). IGS and IFD are caused by defects in the genes CUBN, AMN, and GIF. We describe a 2 year old male who presented with severe megaloblastic anemia and methylmalonic acidemia. He was found to have a GIF heterozygous mutation c.79+1G>A associated with congenital gastric intrinsic factor deficiency and a novel variant c.960C>A in trans position.

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To verify the psoas major muscle (PMM) anatomical origin and variants, to evaluate the PMM attachment to the lumbar disc and variants, and to search for correlation between the anatomic variants of PMM attachment to the disc and disc extrusion.

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Malleus ankylosis known as House syndrome is very rare. It represents 38.1% of congenital malformation of the middle ear [1] if stapes ankylosis is associated.

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Hirschsprung’s disease is a rare pathology Most cases become manifest during the neonatal period, but in rare instances, the disease is initially diagnosed in adult patients.

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The incidence of complete heart block following Glenn’s shunt is not known. Complete heart block may occur immediately after surgery or early in the postoperative period and also may occur many months or years after surgery.

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The nutrition source of developing embryo at early stages is the omphalomesenteric duct which obliterates latter. Failure of this obliteration process brings on omphalomesenteric remnants.

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Cleft lip is a common craniofacial anomaly. Median cleft lip is a midline vertical cleft through the upper lip. Of all the types of clefts, minimal Median cleft of the upper lip is a very rare craniofacial anomaly.

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