scholarly journals Vestibular Derangement and Motion Intolerance in VATER Association

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Orit Samuel ◽  
Avi Shupak ◽  
Ayelet Eran ◽  
Dror Tal
Keyword(s):  
Congenital Malformations ◽  
Tracheoesophageal Fistula ◽  
Laboratory Diagnosis ◽  
Anal Atresia ◽  
Lateral Semicircular Canal ◽  
Vater Association ◽  
Bone Anomalies ◽  
Vertebral Defects ◽  
Field Defect ◽  
Radial Bone

VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported.

VATER Association

2003 ◽  
Vol 22 (3) ◽  
pp. 71-75 ◽  
Author(s):  
Janie Spoon
Keyword(s):  
Ventricular Septal Defect ◽  
Tracheoesophageal Fistula ◽  
Umbilical Artery ◽  
Septal Defect ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Single Umbilical Artery ◽  
Vater Association ◽  
Vertebral Defects ◽  
Cardiovascular Anomalies

VATER ASSOCIATION WAS FIRST described in 1973 as a nonrandom group of related defects, as follows: V = vertebral defects, A = anal atresia, TE = tracheoesophageal fistula, R = radial limb dysplasia.1 Since that time, various expansions of the acronym have been suggested in an effort to further define the scope of the VATER association. Temtamy and Miller expanded the V in VATER to include vascular anomalies, specifically, ventricular septal defect and single umbilical artery.2 An expansion of the acronym to VACTERL has been suggested, with the C denoting cardiovascular anomalies and the L denoting limb anomalies.3 The designation of VATER or VACTERL association can be made for infants with at least three of the defects designated in the acronym.4

scholarly journals VACTERL-H SYNDROME – A CASE REPORT

2019 ◽  
Vol 3 (9) ◽  
Author(s):  
Dr. Priya Singh ◽  
Prof. Dr. Ghazi Sharique Ahmad ◽  
Prof. Dr. Ahmad Rizwan Karim
Keyword(s):  
Congenital Malformations ◽  
Failure To Thrive ◽  
Facial Asymmetry ◽  
Postnatal Period ◽  
The Body ◽  
Surgical Correction ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Vater Association ◽  
Ear Malformations

The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. VACTERL association is an association of birth defects that affects multiple parts of the body. It includes vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The diagnosis of VACTERL-H Syndrome is majorly based upon the complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often varies greatly. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive. Hence early diagnosis and early interventions are needed to prevent morbidity and mortality. Key words: VACTERL-H syndrome, congenital malformations, clinical examinations

Tracheal agenesis, a frightening scenario

2016 ◽  
Vol 130 (3) ◽  
pp. 314-317 ◽  
Author(s):  
H Mohammed ◽  
K West ◽  
J Bewick ◽  
M Wickstead
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Tracheoesophageal Fistula ◽  
Oesophageal Atresia ◽  
Case Series ◽  
Renal Dysplasia ◽  
University Hospital ◽  
Tracheal Agenesis ◽  
Vater Association ◽  
Vertebral Defects

AbstractObjective:This paper discusses three cases of tracheal agenesis that presented within a six-week period to the Norfolk and Norwich University Hospital. By reviewing the available literature on tracheal agenesis, the report aims to outline a protocol for future prenatal and postnatal management.Methods:A case series and a literature review.Results:Three cases of tracheal agenesis presented in the classical manner, with respiratory distress and unsuccessful intubation following delivery. A literature review confirmed that prenatal diagnosis requires future innovation; survival is rare and is predominately reliant on intubation of the oesophagus when a patent tracheoesophageal fistula is present. In most cases, tracheal agenesis represents part of the ‘VATER’ association: vertebral defects, anal atresia, tracheoesophageal fistula with oesophageal atresia, and radial or renal dysplasia. Complex, multiple-stage surgical procedures have been described; however, no survival to adolescence is documented.Conclusion:There is a call for improved prenatal diagnosis to allow both adequate counselling of parents and preparation for multi-specialty management at delivery. In addition, these cases highlight the ongoing need for improved congenital anomaly data within the UK, with currently only 49 per cent of England's births being registered.

scholarly journals Mandibulofacial dysostosis with microcephaly: a syndrome to remember

2019 ◽  
Vol 12 (8) ◽  
pp. e229831 ◽  
Author(s):  
Joana Brandão Silva ◽  
Diana Soares ◽  
Miguel Leão ◽  
Helena Santos
Keyword(s):  
Congenital Malformations ◽  
Tracheoesophageal Fistula ◽  
Oesophageal Atresia ◽  
Cerebral Atrophy ◽  
Rare Condition ◽  
Pathogenic Mutation ◽  
Heterozygous Carrier ◽  
Short Neck ◽  
Lower Lip ◽  
Mandibulofacial Dysostosis

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular–cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.

scholarly journals Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia

2009 ◽  
Vol 63 (4-5) ◽  
pp. 159-162
Author(s):  
Zane Ābola ◽  
Aigars Pētersons ◽  
Daila Pugačevska ◽  
Astra Zviedre ◽  
Jana Lackaja
Keyword(s):  
Abdominal Wall ◽  
Esophageal Atresia ◽  
Congenital Malformations ◽  
Tracheoesophageal Fistula ◽  
Duodenal Atresia ◽  
University Hospital ◽  
Abdominal Wall Defects ◽  
Postnatal Diagnosis ◽  
Expectant Mothers

Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia The most common surgical congenital malformations of newborns in Latvia are esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), duodenal atresia (DA) and abdominal wall defects — gastroschisis (G) and omphalocele (O). Survival and quality of life of these patients depend on precise pre- and postnatal diagnosis, timely and qualified treatment, and presence of associated anomalies and prematurity. The aim of our study was to define prenatal and postnatal diagnostic problems of the most common surgical congenital malformations of new-borns in Latvia. Data concerning pre- and postnatal diagnostics from case-records of patients treated in Children's Clinical University Hospital from 1998 till 2008 with esophageal atresia (58 patients), duodenal atresia (20 patients) and congenital abdominal wall defects — gastroschisis (17 patients) and omphalocele (28 patients) were analysed. Results showed that in case of EA prenatal USG was performed in 62% of expectant mothers and in neither case suspicion about. EA was expressed. In all patients after birth diagnostic placement of nasogastric tube was performed. In approximately one-third catheter of bad opaqueness was used. Preoperative bronchoscopy and esophagoscopy in order to exclude upper tracheoesophageal fistula were performed in two patients from the analysed group. In 40% of cases DA was diagnosed in prenatal ultrasonography. G was diagnosed prenatally in 29.4%, O — only in 3.7%.

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

2014 ◽  
Vol 57 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Robert Smigiel ◽  
Carlo Marcelis ◽  
Dariusz Patkowski ◽  
Nicole de Leeuw ◽  
Damian Bednarczyk ◽  
...  
Keyword(s):  
Tracheoesophageal Fistula ◽  
De Novo ◽  
Oesophageal Atresia ◽  
Anal Atresia

scholarly journals Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases

Children ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 255
Author(s):  
Lorenzo Bresciani ◽  
Paola Grazioli ◽  
Roberta Bosio ◽  
Gaetano Chirico ◽  
Cesare Zambelloni ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Neonatal Intensive Care ◽  
Renal Dysplasia ◽  
Esophageal Intubation ◽  
Mask Ventilation ◽  
Anal Atresia ◽  
Severe Respiratory Distress ◽  
First Case ◽  
Emergency Tracheostomy ◽  
Vertebral Defects

We discuss two cases of congenital airway malformations seen in our neonatal intensive care unit (NICU). The aim is to report extremely rare events characterized by immediate respiratory distress after delivery and the impossibility to ventilate and intubate the airway. The first case is a male twin born at 34 weeks by emergency caesarean section. Immediately after delivery, the newborn was cyanotic and showed severe respiratory distress. Bag-valve-mask ventilation did not relieve the respiratory distress but allowed for temporary oxygenation during subsequent unsuccessful oral-tracheal intubation (OTI) attempts. Flexible laryngoscopy revealed complete subglottic obstruction. Postmortem analysis revealed a poly-malformative syndrome, unilateral multicystic renal dysplasia with a complete subglottic diaphragm, and a tracheo-esophageal fistula (TEF). The second case is a male patient that was vaginally born at 35 weeks. Antenatally, an ultrasound (US) arose suspicion for a VACTERL association (vertebral defects, anal atresia, TEF with esophageal atresia and radial or renal dysplasia, plus cardiovascular and limb defects) and a TEF, and thus, fetal magnetic resonance (MRI) was scheduled. Spontaneous labor started shortly thereafter, before imaging could be performed. Respiratory distress, cyanosis, and absence of an audible cry was observed immediately at delivery. Attempts at OTI were unsuccessful, whereas bag-valve-mask ventilation and esophageal intubation allowed for sufficient oxygenation. An emergency tracheostomy was attempted, although no trachea could be found on cervical exploration. Postmortem analysis revealed tracheal agenesis (TA), renal dysplasia, anal atresia, and a single umbilical artery. Clinicians need to be aware of congenital airway malformations and subsequent difficulties upon endotracheal intubation and must plan for multidisciplinary management of the airway at delivery, including emergency esophageal intubation and tracheostomy.

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