scholarly journals Neonate with congenital absence of the nose: case report

Author(s):  
Adriana Nieto-Sanjuanero ◽  
Arturo García-Ramírez ◽  
María Martínez-Cobos ◽  
Edmundo García-Martínez ◽  
Manuel De la O-Cavazos ◽  
...  

<p class="abstract">The congenital absence of the nose is called arrhinia and according to the Losee et al classification, it is type I. Total arrhinia is considered if it is associated with the absence of the olfactory system (olfactory tracts and bulbs). In Mexico, there is only one reported case of arrhinia. In this case report, we presented a neonate with a congenital absence of the nose. The absence of olfactory tracts and bulbs was verified with imaging and pathological studies, classifying it as total congenital arrhinia. This case was the first of its type in our country. Since it was a rare condition, there was little bibliography on its management, therefore, coordination between the different specialties is important for proper management.</p>

2019 ◽  
pp. 199-206
Author(s):  
О. З. Скакун ◽  
С. В. Федоров ◽  
О. С. Вербовська ◽  
І. З. Твердохліб

Distinctive atrioventricular type I heart block is diagnosed when the PQ interval is 0.30 s. or more. Prolongation of the PQ interval more than 0.50 s. is a very rare condition. Usually it is associated with a pseudo-pacemaker syndrome. The last one manifests itself with dizziness, syncope, general weakness, shortness of breath upon physical exertion, cough, seizures, cold sweat, a feeling of pulsation in the head, neck and abdomen, a headache, paroxysmal nocturnal dyspnea, swelling of the lower extremities, tachypnea and jugular venous pulsation. The P wave appears immediately after the previous QRS complex. Atrial contraction occurs at the moment when the ventricles don’t relax after the previous contraction; due to the fact that pressure in the ventricles at this moment is higher than in the atria, the tricuspid and mitral valves remains closed. During the atrial contraction, most of the blood is ejected not into the ventricles, but backward into the pulmonary veins from the left atrium and into the venae cavae from the right atrium. Also, an atrial kick is absent which results in a less ventricular filling. There is increased pressure in the atria leading to their distension and excessive secretion of the atrial natriuretic peptide. A case report of the distinctive atrioventricular type I heart block associated with the pseudo-pacemaker syndrome is described. The patient suffered from a pre-syncope, short-term dizziness during the previous two days, tinnitus, general weakness, feeling of pulsation in the abdomen, neck, head, which interfered with his sleep. He developed these complaints after an infectious disease, which manifested as a runny nose and sore throat. In this patient, an extremely prolonged PQ interval up to 0.70 s. was observed. Also, episodes of Mobitz I and Mobitz type II atrioventricular block were detected. During the monitoring of patient state, the interval PQ was gradually shortening, and in 1 month it reached the normаl duration. It can be assumed that in the case of distinctive atrioventricular type I heart block, a significant prolongation of the refractory period in the rapid pathways of the AV-node plays a key role in the pathogenesis of this condition. According to the recommendations of the ACC/AHA (1998), for patients with distinctive atrioventricular type I heart block accompanied by the pseudo-pacemaker syndrome and documented alleviation of symptoms with temporary AV pacing, the pacemaker implantation should be considered (IIaB). The implantation of dual chamber pacemaker may reduce symptoms and lead to an improvement in the functional state of patients, in whom shortening of the interval between atrial and ventricular contractions improves hemodynamics. For asymptomatic patients with the PQ interval of ≥ 0.30 s, pacemaker is not recommended. The distinctive atrioventricular type I heart block in patients with pseudo-pacemaker syndrome is a rare condition and often remains undiagnosed. But it may have a benign course with a gradual normalization of the PQ interval. Indications for permanent pacemaker implantation should be reviewed as this block may be completely reversible. A permanent pacemaker may be used in the case of absence of positive dynamics in a shortening of the PQ interval.    


2014 ◽  
Vol 17 (02) ◽  
pp. 1472002
Author(s):  
Sudhir Ramkishore Mishra ◽  
Jaysree Ramesh

Congenital absence of patella is a rare condition. In the literature, very few cases has been reported. Congenital absence of patella is one of the finding of few rare syndromes associated with osteo-onycho-dysplasia. This is a case report of a 19-year-old adult boy with isolated bilateral congenital absence of patella, which is an extremely rare condition.


2014 ◽  
Vol 59 (No. 10) ◽  
pp. 506-510
Author(s):  
F. Macri ◽  
G. Rapisarda ◽  
G. Lanteri ◽  
S. Di Pietro ◽  
E. Auriemma ◽  
...  

A case of a unilateral forelimb congenital defect in a three-month-old female puppy dog with clinical and radiographic findings is described here. Congenital absence of humerus with preaxial terminal longitudinal hemimelia is a rare condition in human and animal species. Although similar congenital limb deformities in dogs have previously been documented, the present case is, to the authors&rsquo; knowledge, the first report of this type of forelimb hemimelia in a dog, and represents an addition to the scant literature on this topic. &nbsp;


1998 ◽  
Vol 19 (5) ◽  
pp. 329-331 ◽  
Author(s):  
Clifford L. Jeng ◽  
Alan Maurer ◽  
Mark S. Mizel

Congenital absence of the fibular sesamoid of the hallux is an extremely rare condition. We could find only one previously reported case in the literature. The authors present a second case of congenital absence of the fibular sesamoid and a review of the literature regarding the clinical significance of this anomaly.


2016 ◽  
Vol 69 (9-10) ◽  
pp. 302-304
Author(s):  
Zorana Pavlovic ◽  
Branislav Stankovic

Introduction. Frontonasal dysplasia is a rare condition of congenital structure malformations of the midface. Ophthalmologic abnormalities have been estimated to occur in 87% of cases of frontonasal dysplasia. Case Report. We report a case of type I frontonsal dysplasia in a 15-year old boy after the correction of severe hypertelorism, median nasal cleft with a broad nasal root and associated decompensated intermittent exotropia with overaction of the inferior oblique muscles and V pattern. He underwent bilateral lateral rectus recessions of 6.0 mm for intermittent exotropia when he was six years old. The correction of hypertelorism was performed with orbital rotation surgery when he was thirteen years old. For some time after strabismus surgery, the ocular alignment improved, but it deteriorated gradually. The ocular alignment improved after the hipertelorismus correction; however, intermittent exotropia deteriorated gradually again six to seven months later. On the last ophthalmologic examination, he had the ocular alignment on the level of small angle exotropia and associated hypertropia and occasionally even small angle esotropia at near. There was bilateral overelevation in adduction and V pattern, which remained unchanged after extensive facial bones surgical procedures. Conclusion. The high incidence of ocular abnormalities, particularly exodeviations, indicates that the early assessment by an ophthalmologist should be a part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems.


2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Nagihan Koç ◽  
L. Berna Çağırankaya ◽  
Nursel Akkaya

Congenital absence of maxillary permanent canines is an extremely rare condition, which may appear as part of a syndrome or as a nonsyndromic form. Nonsyndromic canine agenesis combined with other types of tooth agenesis has occasionally been described in the literature but isolated cases are rarely observed. This report presents an isolated case of maxillary permanent canine agenesis in a healthy 18-year-old female patient and a literature review on the prevalence, etiology, and differential diagnosis of the condition.


2011 ◽  
Vol 2 (3) ◽  
pp. 259-262 ◽  
Author(s):  
Mahadevi B Hosur ◽  
RS Puranik ◽  
Shrinivas S Vanaki

ABSTRACT Oligodontia, a form of hypodontia commonly seen in permanent than in deciduous dentition. It is defined as the congenital absence of six or more teeth, excluding third molars. It is relatively a rare condition that can occur either as an isolated finding or as part of a syndrome. A case of nonsyndromic oligodontia in a 12-year-old boy with congenital absence of all permanent teeth except the premolars (excluding third molars) and over-retained deciduous dentition with conical shaped anteriors is reported. The prevalence, possible etiological factors and treatment options of the condition is reviewed.


2019 ◽  
Vol 98 (7) ◽  
pp. 291-296

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.


1998 ◽  
Vol 48 (3) ◽  
pp. 215-218
Author(s):  
Masao Suzuki ◽  
Akio Ohtaki ◽  
Shigeru Ohki ◽  
Takashi Ibe ◽  
Jun Murakami ◽  
...  

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