Rare Developmental Anomaly Research Articles

Fusion of a supernumerary tooth with primary central incisor

Fusion is a relatively rare developmental anomaly of the shape of the tooth characterized by union of two adjacent teeth. This can be seen in both deciduous and permanent dentition. Depending on the stage of development of teeth at the time of union, fusion may be either complete or incomplete. The prevalence of tooth fusion in the primary dentition is 0.5%–2.5% and 0.1% in permanent dentition. The exact etiology is not known, but it is thought that some physical forces or pressures cause the contact of developing teeth. The fused teeth can lead to various problems. Here, we discuss a case of a fusion in primary central incisor with supernumerary tooth in a 7-year-old male child.

An unusual case of steatorrhea

Partial agenesis of the pancreas is a rare developmental anomaly of the pancreas which can lead to exocrine and endocrine insufficiency. We report a 61-year-old male patient with steatorrhea who was found to have complete agenesis of the dorsal pancreas. He presented with a history of loose stools for 5 years, and the stools were at times oily in nature without mucus or blood. His clinical examination was unremarkable. Seventy-two hour stool fat was increased (21.4 g, normal 200), and computed tomography of the abdomen revealed a normal head and uncinate process of the pancreas, abscence of body and tail of pancreas associated with a nondilated duct system. He was put on pancreatic enzyme supplements and he responded to the treatment, and on follow-up after 6 months, his stool frequency had declined and his fecal elastase had improved.

REGIONAL ODONTODYSPLASIA IMAGING ASPECTS

Regional odontodysplasia (RO) is a rare developmental dental anomaly with a prevalence of less than 1 in 1,000,000 in humans. The main objective of the present work is to present imaging aspects of RO. A 13-year-old female patient was referred to the radiology clinic for panoramic radiography and cone beam computed tomography. In these examinations all the teeth in the left maxilla and the tooth 11 showed alteration in size and shape of the crown and root. The affected teeth had the appearance of ghost teeth, with a reduction in enamel thickness and density in addition to large pulp chambers and open apices. Usually, the teeth presented developmental delay and eruption in relation to the corresponding ones on the contralateral side. The alterations identified in the imaging tests suggest a diagnosis of RO. The proposed treatment was conservative until the period of bone maturation.

Co-existence of CPAM with Megacystis Due to Posterior Urethral Valve and Cardiac Dysfunction in a Monozygotic Twin Pregnancy

AbstractCongenital pulmonary airway malformation is a rare developmental anomaly of the lower respiratory tract. It is classified into three major types depending on the size and number of cysts. Though the type II CPAM is known to be associated with congenital malformations, co-existence with a lower urinary tract obstruction (LUTO) has not been documented. We describe a novel combination of CPAM with megacystis due to posterior urethral valves in one of the twins of a monozygotic twin pregnancy. Further, we discuss the cardiovascular effects of megacystis. This was previously considered to be due to pressure effect of megacystis on iliac veins and inferior vena cava. Recently activation of RAS system has been shown to predict the severity of cardiac disease. Further studies will clarify the precise etiology of cardiac dysfunction in LUTO and megacystis.

Anesthesia Practice: Review of Perioperative Management of H-Type Tracheoesophageal Fistula.

Tracheoesophageal fistula (TEF) is a rare congenital developmental anomaly, affecting 1 in 2500–3000 live births. The H-type TEF, consisting of a fistula between the trachea and a patent esophagus, is one of the rare anatomic subtypes, accounting for 4% of all TEFs. The presentation and perioperative management of neonates with H-type TEFs and all other TEFs are very similar to each other. Patients present with congenital heart disease and other defects and are prone to recurrent aspirations. A barium esophagogram or computed tomography of the chest is a common means to the diagnosis, and surgical repair is carried out through either a cervical approach or a right thoracotomy. During operation, anesthetic management is focused on preventing positive pressure ventilation through the fistula in an attempt to minimize gastric distension. For patients with H-type TEFs, because of the patent esophagus, symptoms are often less severe and nonspecific, resulting in subtle yet important differences in their diagnostic workup and management. This review will cover the finer details in the diagnosis and perioperative anesthetic management of TEF patients and clarify how H-type TEF distinguishes itself from the other anatomic subtypes.

CONGENITAL BRONCHIAL ATRESIA: A RARE ENTITY

SESSION TITLE: Tuesday Medical Student/Resident Case Report Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Congenital Bronchial Atresia (CBA) is a rare developmental anomaly, results from focal interruption of bronchus along with the formation of mucocele (mucus filled bronchus). It often presents in adulthood, as an incidental finding on radiography or recurrent pneumonia. Computed tomography (CT) angiogram of the chest remains the investigation of choice in the diagnosis of CBA while bronchoscopy should be done to rule out other etiologies of hyperinflation. Management of CBA is conservative for asymptomatic individuals while surgery is reserved for individuals who have the recurrent infection and severe symptoms. CASE PRESENTATION: 19-year-old male with no known past medical history presented to the ED for evaluation of dry cough and subjective fever for 5 days. Patient denied any shortness of breath, hemoptysis, chest pain, night sweats, weight loss or change in appetite. Patient was not taking any medication at home. Past surgical and family history was not significant. Patient denied smoking, alcohol use and any illicit drug abuse. On admission, he was afebrile, hemodynamically stable and saturating 99% on room air. In terms of labs, white cell count was elevated initially and then trended down; rest of the labs including molecular flu, pro-calcitonin, legionella antigen, mycoplasma antigen, respiratory syncytial virus PCR and blood culture were negative. Chest x-ray showed hyperlucency and decreased vascularity in the left upper lung zone along with consolidation in the left lower lobe. Patient was started on antibiotics and treated for community-acquired pneumonia. CT angiogram of the chest (1) showed round soft tissue density suggestive of mucoid impaction of the left bronchus likely mucocele along with hyperlucent left upper lobe and hypoplastic vasculature consistent with bronchial atresia (Figure 1 and 2). Bronchoscopy was normal which was done to rule out other etiologies like foreign body, bronchial adenoma, and lung cancer. V/Q scan showed no ventilation and perfusion to the majority of left upper lobe (figure 3). Patient showed signs of clinical improvement and discharged on oral antibiotics with outpatient follow up. DISCUSSION: CBA is a benign and rare entity with characteristic imaging finding resembling other serious underlying disease. Management can range from conservative measure to the surgery of an involved segment of the lung. Therefore, it is imperative to understand the nature of the disease and counsel the patient accordingly. CONCLUSIONS: Although benign entity, CBA should be kept in the differential especially in young patients who present with hyperinflation of one or more segment of lung which might cause compression atelectasis and/or pneumonia of the other adjacent segments as it presented in our case. CTA of the chest is usually the modality to diagnose with bronchoscopy and V/Q scan to guide further management. Reference #1: Psathakis K, Eleftheriou D, Boulas P, Mermigkis C, Tsintiris K. Congenital bronchial atresia presenting as a cavitary lesion on chest radiography: a case report. Cases J. 2009;2(1):17. Published 2009 Jan 7. https://doi.org/10.1186/1757-1626-2-17 Reference #2: Mahajan AK, Rahimi R, Vanderlaan P, Folch E, Gangadharan S, et al. (2017) Unique Approach to Diagnosing and Treating Congenital Bronchial Atresia (CBA): A Case Series. J Pulm Respir Med 7:402. https://doi.org/10.4172/2161-105X.1000402 DISCLOSURES: No relevant relationships by Anas Al-khateeb, source=Web Response No relevant relationships by mohammed halabiya, source=Web Response No relevant relationships by Muhammad Hussain, source=Web Response No relevant relationships by Muqueet Kadri, source=Web Response No relevant relationships by Richard Miller, source=Web Response No relevant relationships by Hari Sharma, source=Web Response

Predictors of in-hospital mortality in newborn conjoined twins

BackgroundConjoined twins are rare developmental anomalies. There is a paucity of literature other than case reports and small case series. The aim of this study was to examine national outcomes and identify predictors of mortality in newborn conjoined twins. MethodsWe reviewed data on newborn conjoined twins from the Kids' Inpatient Database (1997–2012). ResultsA total of 240 patients were identified for a nationally weighted incidence of 1 per 100,000 live births. The majority of conjoined twins were female (n = 190 [81%]). The most commonly associated anomalies were cardiac (n = 87 [36%]), gastrointestinal (n = 41 [17%]), and abdominal wall (n = 32 [13%]) defects. Fifty-six (23%) patients underwent operative procedures, including 28 (12%) neonatal separation surgeries. The overall mortality rate was 61%; most deaths occurred within 24 hours (99 of 146 [68%]) to 48 hours (129 of 146 [88%]) after birth. Mortality was higher in female compared with male children (66% vs 38%, P = .025), premature compared with full-term children (72% vs 44%, P = .007), and in children with extremely low birth weight (95% vs 59%, P = .002). Congenital diaphragmatic hernias were seen in 15 (6%) patients and were uniformly fatal (100% vs 58%, P = .029). Mortality was highest in hospitals not designated as children’s hospitals (72%) compared with children’s hospitals (44%) (P = .007). ConclusionConjoined twins are rare anomalies who are susceptible to extremely high perinatal mortality, especially in female children, those who are premature, or those who have low birth weight. These data support caring for these complex patients at hospitals equipped to care for this fragile population.

REGIONAL ODONTODYSPLASIA: A CASE REPORT

Objective Report a case of regional odontodysplasia in the maxilla of a pediatric patient and the immunohistochemical expression of different types of collagen. Regional odontodysplasia is a rare developmental anomaly, involving the ectoderm and ectomesenchyme of the temporally and permanent teeth. It tends to be locallizated in only one arch of the jaws. Case report A 8-year-old female patient, with no significant hereditary or pathological history. On examination dental agenesis C, D, E is observed. Radiographically revealed 6, 7 and 8 with radiopaque contour and loss of the delimitation between enamel-dentin complex, giving an appearance of ghost teeth. Surgical treatment was performed. Microscopic examination follicular tissue contains scattered collection of enameled congregates and islands of odontogenic epithelium. Immunohistochemical expression of different types of collagens was heterogeneous in the dentin (col. 1,2,3,4,5,6,10 and 11). These results are consistent with an abnormal dentin development. Conclusion Regional odontodysplasia is an alteration that develops at a very early age, so the interdisciplinary management and the choice of treatment are fundamental since the treatment must be specific for each patient.

Retrospective Liver Histomorphological Analysis in Dogs in Instances of Clinical Suspicion of Congenital Portosystemic Shunt.

IntroductionThe clinical symptoms of portosystemic shunts (PSSs) and hepatic microvascular dysplasia (HMD) – portal vein hypoplasia (PVH) in dogs are similar. PSSs are abnormal vascular connections between the portal vein system and systemic veins. HMD is a very rare developmental vascular anomaly, recognisable during histopathological examination. The study aim was to assess the prevalence of HMD–PVH and hepatocellular and vascular pathologies in the liver.Material and MethodsLiver biopsies from 140 dogs (of different breeds and both sexes) arousing clinical suspicion of PSS were examined histopathologically.ResultsAn initial PSS diagnosis was confirmed in 125 dogs (89.29%). HMD–PVH was found in 12.32% of dogs, as an isolated disease in 9.29%, especially in Yorkshire terriers, and with extrahepatic PSS in 6.67%. Histopathological analysis of muscles around sublobular veins showed that HMD cases presented hypertrophy or hypertrophy with fibrosis. In 2.17% of all dogs with liver vascular developmental disorders calcification was visible around vessels (without correlation by degenerative changes in those vessels), suggesting prior onset of deep metabolic disorders. Clinical suspicion of PSS was also formed upon quite different pathological processes in young dogs.ConclusionHistopathological findings diagnosed the type of vascular anomalies (PSS or HMD–PVH) or other pathological changes conclusively, therefore detailed hepatic histopathology is an indispensable component of the clinical diagnostic process.

Paediatric nasal dermoids: Our experience

ObjectivesNasal dermoids are rare developmental anomalies seen in children. This study reports our experience in a developing country of the clinical and radiological findings as well as the management of nasal dermoids. MethodsA retrospective analysis was performed, from 2012 to 2017, for 10 patients admitted for the treatment of nasal dermoids at a tertiary care center. The clinical presentation, preoperative imaging (CT/MRI), surgical approach, intraoperative findings, complications and recurrence were reviewed. ResultsTen patients were included in this study, 6 males and 4 females, with an average age of 10.2 years at the time of presentation. Three patients presented with a mass located on the nasal dorsum, 1 had a nasoglabellar mass, 2 patients had a mass located on the nasal dorsum with visible sinus, and 4 patients presented with a sinus on the nasal dorsum, in which 1 patient had a tuft of hair. CT was performed in all the cases. It was not suggestive of intracranial extension in 9 patients, and was non-diagnostic in one patient. Both CT and MRI were performed on 2 patients, with no evidence of intracranial extension. Surgical and radiological findings were concordant in 8 patients (80%). ConclusionNasal dermoids require preoperative imaging and precise surgical planning to achieve complete removal.

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation

ObjectiveTooth agenesis is one of the most common craniofacial developmental anomalies. In hypodontia, one to five teeth are missing, whereas oligodontia refers to the absence of at least six teeth, excluding the third molars. Mutations in several genes including MSX1, PAX9, AXIN2, and WNT10A have been shown to cause non-syndromic tooth agenesis. Regional odontodysplasia (RO), also known as “ghost teeth,” is a rare developmental anomaly of tooth formation affecting both dentitions. Some possible causes of RO have been suggested, yet the etiology remains unknown. Because the phenotypes of both oligodontia and RO co-occur in one Finnish family, the aim here was to investigate the genetic etiology of the two conditions.Materials and methodsA mutation screening of the genes MSX1, PAX9, AXIN2, and WNT10A was performed for the family members of a RO patient and family history of oligodontia.ResultsAn initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family.ConclusionsThe etiology of regional odontodysplasia (RO) may be genetic and the same genes can be involved both in RO and tooth agenesis.Clinical relevanceOur results give new insights into the etiology of regional odontodysplasia, yet further results are needed.

Bilateral multiple supernumerary premolars in a non-syndromic patient: A rare case report

Supernumerary teeth are extra teeth above the normal erupted teeth number. Supernumerary premolars are rare developmental anomalies when compared to mesiodens and other supernumerary teeth. Supernumerary premolars are more common in the mandible than the maxilla. This article reports a rare occurrence of supplemental premolars bilaterally present in the maxilla and mandible arches in a non-syndromic patient. Keywords: Supernumerary teeth, premolars, bilateral, maxilla, mandible

Congenital midline cervical cleft in a neonate born to diabetic mother – An unusual association

Congenital midline cervical cleft is a rare developmental anomaly of the neck region with only 200 cases reported till date. This case report highlights an unusual association of congenital midline cervical cleft and maternal diabetes. We report a neonate born to a mother with uncontrolled type 2 diabetes who presented with a midline neck lesion characterized by a proximal skin tag, middle mucosal surface and a distal blind sinus causing micro retrognathia with no other visible malformation. Most of the cases reported till date have a sporadic occurrence. This is the first possible report of this anomaly in a neonate of diabetic mother. This raises a possibility of being a part of diabetic embryopathy, however occurrence by chance cannot be completely ruled out.

Isolated Congenital Tracheobiliary Fistula

Congenital tracheobiliary fistula is a rare developmental anomaly with a persistent communication between the biliary system and the trachea. A 7-day-old baby with severe respiratory distress and aspiration pneumonia. Tracheobilliary fistula identified on bronchoscopy. Open surgical excision of fistula was followed by improvement. This condition should be considered in the differential diagnosis of intractable aspiration pneumonia.

Ectopic Liver Tissue on the Gallbladder: a Rare Incidental Finding

Ectopic liver is a rare developmental anomaly that most commonly is incidentally detected in the abdomen, with the gallbladder being the most common site during laparoscopic surgery. Although the natural course of the ectopic liver is unpredictable, rarely they can become symptomatic due to torsion, necrosis, rupture, pyloric obstruction, and malignant transformation. Here, we report an interesting image of an ectopic liver on the gallbladder with its own vascular supply, detected during laparoscopic cholecystectomy in a patient with gallstone-induced acute pancreatitis.

Ectopic lumbar kidney: a rare presentation

Ectopic kidney is a rare developmental anomaly. Such kidneys may be asymptomatic or present with vague symptoms or remain unknown during the lifetime. Early detection and recognition of an ectopic kidney can prevent long-term complications. We report a 70-year-old lady with ectopic right kidney who presented with intermittent episodes of lower abdominal pain since one month 1 month. On clinical evaluation a tender lump was palpable in the right lower quadrant of the abdomen. Sonography revealed empty right renal fossa with normally present left kidney. A mass was detected in the right lower abdomen, with probability of ectopic kidney. Further, Multislice computed tomography with 3-D reconstruction demonstrated ectopic right kidney at the level of L4 to L5 lumbar vertebrae. Urine examination revealed pyuria. The patient was managed on empirical antibiotics for UTI with supportive and symptomatic therapy. On the next day, clinically the lump regressed significantly (Dietl's crises) in size, and the tenderness also reduced. The urine culture report grew Escherichia coli. Patients presenting with lower abdominal pain, and a palpable lump in the lower abdomen, one must include ectopic kidney in the differential diagnosis.

The Articulating Neural Arch: A Rare Developmental Anomaly

The separate neural arch (spondylolysis) is a common occurrence in forensic examinations as well as in other clinical, anatomical, and osteological casework. A faceted articulating neural arch, in comparison, is a very rare developmental anomaly, differing from spondylolysis by its etiology and the presence of accessory “intermediate” joint facets resulting in three pairs of diarthrodial facets in one vertebra. The morphology and rarity of the faceted articulating neural arch can assist medicolegal specialists in establishing the identity of fleshed or skeletonized human remains. The authors present what may be the first accurately diagnosed examples of accessory articulating facets in the lumbar vertebrae of three individuals.

Pseudoexstrophy associated with penile duplication and hypospadias: A case report and literature review

Bladder exstrophy is a rare developmental anomaly. Four principle variants of bladder exstrophy have been described and they themselves are rarer than the bladder exstrophy. Authors describe the management of a case of pseudoexstrophy type of variant in a 9 month old male child with penile duplication with torsion and coronal hypospadias. The rectal fascial defect was repaired without osteotomy as the distance between two pubic bones was <4 cm (3.1 cm). Genital reconstruction with excision of duplicate atrophic penile shaft and repair of coronal hypospadias with detorsion of the functional penile shaft could be accomplished. The patient had good outcome in terms of cosmesis and urinary stream. Total of 18 cases of the pseudoexstrophy have been described till date. Pseudoexstrophy of bladder is a very rare condition and can simultaneously present with other defects like omphalocele, anorectal malformations, pouch colon, multiple or solitary urogenital anomalies. The principles of correction though remain same with correction of abdominal wall defect with or without osteotomy depending upon severity of pubic diastasis. Other anomalies can undergo treatment as per standard protocol.

Hydrocele of the canal of Nuck: a rare developmental anomaly

Hydrocele of the canal of Nuck: a rare developmental anomaly

Pyriform aperture stenosis repair in infants

Congenital nasal pyriform aperture stenosis is a rare developmental anomaly, which is considered a variant of holoprosencephaly. It is characterized by a pyriform aperture width of 11 mm or less on maxillofacial computed tomography, and is frequently associated with a solitary median maxillary central incisor. It presents with cyclical cyanosis, feeding difficulty, and respiratory distress. Conservative management includes nasal decongestant, saline and steroid drops, or a McGovern nipple. When conservative management fails, surgical intervention is indicated. Various methods of surgical repair have been described, 2 of which—nasal dilation and bone resection via a sublabial approach—are described in this article. The role of postoperative stenting is also discussed.