Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features

2017 ◽  
Vol 54 (6) ◽  
pp. 749-753 ◽  
Author(s):  
Turan Tunc ◽  
Adem Polat ◽  
Bilal Altan ◽  
Abdul Kerim Yapici ◽  
Mehmet Saldir ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Clinical Features ◽  
Clinical Entity ◽  
Abnormal Development ◽  
Frontonasal Dysplasia ◽  
Branchial Arches

Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

Expanding Phenotype of Fetal Hydantoin Syndrome

PEDIATRICS ◽  
1982 ◽  
Vol 70 (2) ◽  
pp. 328-329
Author(s):  
Boris G. Kousseff ◽  
Edward R. Root
Keyword(s):  
Inguinal Hernia ◽  
Developmental Delay ◽  
Clinical Features ◽  
In Utero ◽  
Anterior Neck ◽  
Vascular Abnormalities ◽  
Cardiac Malformations ◽  
Clinical Observations

We read with interest the article by Bartoshesky et al1 on ophthalmic and lethal cardiac malformations in the newborn exposed to diphenylhydantoin in utero. The article makes an important point about previously undescribed clinical features of fetal hydantoin syndrome and emphasizes the generalized effect of diphenylhydantoin as a teratogen. To elaborate further on this point, we wish to share our clinical observations in two patients with fetal hydantoin syndrome. One patient,2 a male (Figure), showed subcutaneous vascular abnormalities (cystic hygromas, telangiectasias, and capillary phlebectasias) on the anterior neck and both axillae, in addition to developmental delay, esotropia, epicanthal folds, high palate, triphalangeal thumbs, hypoplastic nails, inguinal hernia, and seven arches on the fingertips.

scholarly journals Goldenhar Syndrome Associated with Extensive Arterial Malformations

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Renee Frances Modica ◽  
L. Daphna Yasova Barbeau ◽  
Jennifer Co-Vu ◽  
Richard D. Beegle ◽  
Charles A. Williams
Keyword(s):  
Main Pulmonary Artery ◽  
Abnormal Development ◽  
Goldenhar Syndrome ◽  
Iliac Arteries ◽  
Vascular Abnormalities ◽  
Ct Angiogram ◽  
Branchial Arches ◽  
The Common ◽  
Vertebral Defects ◽  
Left Thyroid Lobe

Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

scholarly journals The Amyand’s Hernia: A Rare Clinical Entity Diagnosed by Computed Tomography

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Suat Keskin ◽  
Cihan Şimşek ◽  
Zeynep Keskin
Keyword(s):  
Computed Tomography ◽  
Inguinal Hernia ◽  
Rare Condition ◽  
Vermiform Appendix ◽  
Clinical Entity ◽  
Ct Scans ◽  
Amyand’S Hernia ◽  
First Person ◽  
Rare Clinical Entity ◽  
Abdominal Computed Tomography

Amyand’s hernia, named for the first person to describe an inguinal hernia containing the vermiform appendix, is an uncommon variant of an inguinal hernia. Amyand’s hernia is an extremely rare condition and is often misdiagnosed. Traditionally, these hernias have been diagnosed at surgery but are increasingly diagnosed by abdominal computed tomography (CT) scans. CT of the abdomen may help in guiding the diagnosis.

scholarly journals Hemifacial Microsomia (HFM) and Treacher Collins Syndrome

2021 ◽  
pp. 1769-1812
Author(s):  
Manikandhan Ramanathan
Keyword(s):  
The Body ◽  
Treacher Collins Syndrome ◽  
Abnormal Development ◽  
Hemifacial Microsomia ◽  
Dentofacial Deformities ◽  
Dentofacial Deformity ◽  
Branchial Arches ◽  
Assessment And Treatment ◽  
Maxilla And Mandible ◽  
Parental Counselling

AbstractHemifacial microsomia and Treacher Collins syndrome are two entities which arise as a consequence of abnormal development of first and second branchial arches in utero. As a result, these dentofacial deformities present with abnormal facies especially the maxilla and mandible. They may also occur as part of other syndromes and may involve other structures of the body. In this chapter, we have discussed the etiology, clinical features, radiological assessment and treatment planning of such cases. Special emphasis should be made on early diagnosis, challenges of airway management and feeding and parental counselling. Since the two deformities are largely considered to be non-progressive, early distraction plays an important role in correction of the dentofacial deformity in these patients.

scholarly journals Sterile Neutrophilic Folliculitis with Vasculopathy in a Young Male Patient with Infective Endocarditis

2019 ◽  
Vol 3 (5) ◽  
pp. 362-365
Author(s):  
Carl Barrick ◽  
Emily Chea ◽  
Naeha Gupta ◽  
Richard McClain ◽  
Steven Purcell
Keyword(s):  
Infective Endocarditis ◽  
Clinical Features ◽  
Male Patient ◽  
Systemic Disease ◽  
Young Male ◽  
Clinical Entity ◽  
Cutaneous Manifestation ◽  
Diagnosis And Treatment ◽  
Medical Illness ◽  
Rare Entity

Sterile neutrophilic folliculitis with vasculopathy is a rare entity histopathologically characterized by neutrophilic or suppurative and granulomatous folliculitis accompanied by a folliculocentric vasculopathy.1 It is described as a cutaneous manifestation of a systemic illness or infectious trigger, and its clinical features vary independently from the underlying medical illness.1 Prompt identification may uncover an underlying systemic disease. Due to the rarity of this clinical entity, there is a paucity of evidence regarding its etiology, diagnosis, and treatment recommendations. We present a case of sterile neutrophilic folliculitis with vasculopathy in a 34-year-old male hospitalized for infective endocarditis.

scholarly journals Clinical features and therapeutic strategies of obstructive azoospermia in patients treated by bilateral inguinal hernia repair in childhood

2014 ◽  
Vol 16 (5) ◽  
pp. 745 ◽  
Author(s):  
Ping Ping ◽  
Xiang-Feng Chen ◽  
Hong-Xiang Wang ◽  
Yi-Dong Liu ◽  
Kai Sun ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Hernia Repair ◽  
Inguinal Hernia Repair ◽  
Clinical Features ◽  
Therapeutic Strategies ◽  
Obstructive Azoospermia ◽  
Bilateral Inguinal Hernia

scholarly journals Laparoscopic inguinal hernia repair: Clinical features

2022 ◽  
Vol 6 (1) ◽  
pp. 31-32
Author(s):  
Alp Yildiz ◽  
Aybala Yildiz ◽  
Volkan Kinas ◽  
Vural Sözen ◽  
Furkan Savas
Keyword(s):  
Inguinal Hernia ◽  
Hernia Repair ◽  
Inguinal Hernia Repair ◽  
Clinical Features ◽  
Laparoscopic Inguinal Hernia Repair ◽  
Laparoscopic Inguinal Hernia

scholarly journals Anomalies of branchial cleft: our experience and review of literature

2017 ◽  
Vol 4 (10) ◽  
pp. 3234
Author(s):  
Neha Sisodiya Shenoy ◽  
Charu Tiwari ◽  
Suraj Gandhi ◽  
Pankaj Dwivedi ◽  
Hemanshi Shah
Keyword(s):  
Clinical Presentation ◽  
Abnormal Development ◽  
Review Of Literature ◽  
Complete Excision ◽  
Duration Of Symptoms ◽  
Incision And Drainage ◽  
Branchial Arches ◽  
Branchial Cleft ◽  
Definitive Surgery

Background: Anomalies of branchial arches are uncommon anomalies of embryonic development and may present as cysts, sinus tracts, fistulae or cartilaginous remnants. We describe our experience with 30 children with branchial cleft anomalies.Methods: Case records of all patients were retrospectively reviewed and analysed with respect to age, sex, clinical presentation, duration of symptoms, investigations, management and follow up. All patients underwent complete excision of the tract/cyst.Results: There were 15 males and 15 females (ratio of 1:1). The average age of presentation was 5 years. Majority of the patients presented with discharging sinuses (n=26). Twenty-six patients had branchial sinuses, three patients had branchial cysts and one had pyriform fistula. The anomalies were lateralized to left side in 17 patients (56.66%), right side in 11 patients (36.66%) and bilateral in 2 patients (0.066%). Complete excision was done in all patients. Four patients presented with abscesses and required incision and drainage. Definitive surgery was done after 6 weeks. There were no complications.Conclusions: Abnormal development of branchial apparatus lead to formation of different anomalies which remain asymptomatic and present later in life as cysts, sinuses or fistulae in neck. Diagnosis is mostly clinical and complete excision provides definitive cure.

scholarly journals The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Alpen B. Patel ◽  
Michael L. Hinni
Keyword(s):  
Clinical Course ◽  
Clinical Entity ◽  
Abnormal Development ◽  
Congenital Disorders ◽  
Rare Clinical Entity

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

scholarly journals Dementia with Lewy bodies and Parkinson’s disease dementia-two independent disorders or one clinical entity within a clinical spectrum of synucleinopathies?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ewa Papuć
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Clinical Features ◽  
Dementia With Lewy Bodies ◽  
Current Knowledge ◽  
Lewy Bodies ◽  
Executive Dysfunction ◽  
Clinical Entity ◽  
Parkinson’S Disease Dementia ◽  
Visual Spatial

AbstractIntroduction: Introduction: Both dementia with Lewy bodies (DLB) and Parkinson’s disease dementia (PDD) are important dementia syndromes that overlap in their clinical features and clinical course, neuropathological abnormalities, and also therapeutic approach. Nevertheless it is still unclear whether DLB and PDD are two different disorders that require differentiation or are one clinical entity within a spectrum of Lewy body disease. Currently these disorders are mainly distinguished on the basis of the relative timing of the onset of symptoms of dementia and parkinsonism. The present paper presents current concepts on the pathogenesis of both disorders and their possible overlap.Material and methods: Online databases in the field of DLB and PDD were searched for to find potentially eligible articles. Only most recent articles published after the year 2000 were chosen.Results: The clinical features of DLB and PDD are similar and include dementia with hallucinations and cognitive fluctuations, as well as parkinsonian signs. Also cognitive deficits are similar in PDD and in DLB, with predominance of executive dysfunction, visual-spatial deficits and memory impairment. Neuropathological changes in both disorders involve the presence of Lewy bodies and Lewy neurites within brainstem, limbic and neocortex, as well as loss of midbrain dopamine cells, and loss of cholinergic neurons in the nuclei of ventral forebrain.Conclusions: Similarities in clinical manifestation, neuropsychological deficits and neuropathological abnormalities may suggest that both DLB and PDD are two different phenotypes of the same disorder. This review article presents current knowledge on similarities and differences between these two clinical entities and raises the question whether they require differentiation or not.

Sign in / Sign up

Export Citation Format

Share Document