scholarly journals A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

2019 ◽  
Vol 6 (3) ◽  
pp. 1394
Author(s):  
Pooja Pradeep ◽  
Nandhinee Umapathi ◽  
Jagadeeshwari S. ◽  
Sundari S. ◽  
D. Shylaja
Keyword(s):  
Autosomal Recessive ◽  
Cleft Lip ◽  
Umbilical Artery ◽  
Branchial Arch ◽  
Vascular Supply ◽  
Goldenhar Syndrome ◽  
Single Umbilical Artery ◽  
Female Ratio ◽  
Male Female Ratio ◽  
Exact Etiology

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.

Atypical Presentation of Goldenhar Syndrome

2021 ◽  
Vol 29 (1) ◽  
pp. 98-101
Author(s):  
Shubhrakanti Sen ◽  
Debmalya Maity ◽  
Arnab Koley
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chromosomal Analysis ◽  
Goldenhar Syndrome ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are   sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Orofacial Clefts: A Clinical Community Study in a Developing Country

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Pius Agbenorku ◽  
Thomas Diby ◽  
Margaret Agbenorku ◽  
Fritz Abude ◽  
Randy Sefenu ◽  
...  
Keyword(s):  
Information Dissemination ◽  
Cleft Lip ◽  
Community Study ◽  
Outreach Program ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Needed Information ◽  
Clinical Community ◽  
Male Female Ratio ◽  
Study Sites

Aim. The study aimed at finding the types of orofacial clefts, reasons for delay in the repair of the deformity and medium through which patients and/or their relatives heard about the outreach program. Methods. This study was from 2009 to 2011 at two different study sites. The team visited various media houses and health facilities at each study site to disseminate information concerning the cleft outreach program. Patients and/or their parents who visited the hospitals were interviewed using a questionnaire designed for the study to retrieve needed information for the study. Patients were then examined and booked for cleft repair by specialists in the team. Results. A total of 61 patients were recorded from both study sites, with ages ranging from 3/12 to 54 years old, with a mean age of 6.7±2.7 (SD) years; while, male : female ratio was 1.05 : 0.5. Cleft lip only (52.5%, n=32) was the highest type of orofacial cleft recorded in the study. In terms of occurrence, complete cleft (63.9%, n=39) was majority; while, position-wise, unilateral cleft right (32.8%, n=20) was the highest. A significant (P=0.017) association between males and unilateral right cleft lips was identified. Lack of finance (47.5%, n=29) was the main reason for delaying in deformity repair. Also, information from physician (41.0%, n=25) was the major medium for information dissemination. Conclusion. Unilateral cleft lip constitutes most of the orofacial clefts in this study, with lack of finance being the commonest reason why patients delay in the repair of their deformity.

scholarly journals Sirenomelia, the mermaid baby: a case report

2019 ◽  
Vol 8 (11) ◽  
pp. 4609
Author(s):  
Reetika Joshi ◽  
Veino Kuveio Duomai ◽  
Bianchi Sangma
Keyword(s):  
Intrauterine Growth Restriction ◽  
Umbilical Artery ◽  
External Genitalia ◽  
Lower Limbs ◽  
Single Umbilical Artery ◽  
Female Ratio ◽  
Fetal Movements ◽  
Anorectal Atresia ◽  
Male To Female ◽  
Live Baby

Sirenomelia sequence or mermaid syndrome is a rare congenital structural anomaly characterized by different degrees of fusion of lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. The incidence of sirenomelia is 0.8-1 cases/ 105 births with male to female ratio being 3:1. A malformations patient with 40 weeks of gestation admitted with complaints of decreased fetal movements for one week. An emergency C-section was done in view of term pregnancy with severe oligohydramnios and intrauterine growth restriction with poor bishop’s score. A 1.9 kg live baby with fused lower limbs was delivered. The new born baby had narrow chest, fused both lower limbs and feet with 11 toes, small rudimentary external genitalia, imperforate anus and single umbilical artery. The baby also had features of potter’s facies including low set large ears, receding chin and prominent infraorbital folds. Sirenomelia is a rare fatal congenital anomaly. Early detection by prenatal ultrasound will help in timely termination of pregnancy.

scholarly journals Sirenomelia, the Mermaid syndrome: a case report

2019 ◽  
Vol 6 (6) ◽  
pp. 2692
Author(s):  
Charusheela Korday ◽  
Baraturam Bhaisara ◽  
Rupali Jadhav ◽  
Suraj Rathi ◽  
Ubaidulla Shaikh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Umbilical Artery ◽  
Antenatal Diagnosis ◽  
Single Umbilical Artery ◽  
Rare Congenital Anomaly ◽  
Mermaid Syndrome ◽  
Organ Systems ◽  
Increased Risk ◽  
Exact Etiology ◽  
Almost All

Sirenomelia, also known as mermaid syndrome, is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. The exact etiology of sirenomelia is unknown. Sirenomelia can be confidently diagnosed in the 1st trimester while the diagnosis in the 2nd and 3rd trimesters is difficult due to the lack of amniotic fluid in the later gestation. Antenatal diagnosis of this universally lethal condition is desirable so that possible termination of pregnancy can be offered at the earliest. 

scholarly journals Kawasaki Disease - a Case Report

2003 ◽  
Vol 42 (148) ◽  
Author(s):  
S Shrestha ◽  
N Adhikari
Keyword(s):  
Heart Disease ◽  
Case Report ◽  
Kawasaki Disease ◽  
Immune Activation ◽  
Systemic Vasculitis ◽  
Age Group ◽  
Female Ratio ◽  
Male Female Ratio ◽  
Acquired Heart Disease ◽  
Exact Etiology

Kawasaki disease, first described by Tomisaku Kawasaki in1967, is an acute systemic vasculitis of infancy and childhood.It is now the leading cause of acquired heart disease indeveloped countries. The most common age group affected isbetween 6 months to 5 years and the peak incidence is inchildren aged 9 to 11 months. The disease has malepreponderance with the male female ratio of 1.5:1. Thoughthe exact etiology is not known the disease is known to beassociated with unusual degree of immune activation andimmunoregulatory abnormality.

scholarly journals Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2—pter with the Deletion of the Terminal Portion of the Chromosome 6

2010 ◽  
Vol 2010 ◽  
pp. 1-5
Author(s):  
Emese Horváth ◽  
János Sikovanyecz ◽  
Attila Pál ◽  
László Kaiser ◽  
Bálint L. Bálint ◽  
...  
Keyword(s):  
Intrauterine Growth Retardation ◽  
Cleft Lip ◽  
Umbilical Artery ◽  
Heart Defects ◽  
Chromosome 17 ◽  
Chromosome 6 ◽  
Terminal Portion ◽  
Balanced Translocation ◽  
Single Umbilical Artery ◽  
Intrauterine Growth

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects. The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2—pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report.

Suicide in Nógrád County, Hungary, 1970-1994

Crisis ◽  
1999 ◽  
Vol 20 (2) ◽  
pp. 64-70 ◽  
Author(s):  
Tamás Zonda
Keyword(s):  
High Risk ◽  
Psychiatric Disorders ◽  
Suicide Rate ◽  
Risk Groups ◽  
The Elderly ◽  
Female Ratio ◽  
Suicide Notes ◽  
Suicidal Intention ◽  
Male Female Ratio

The author examined completed suicides occurring over a period of 25 years in a county of Hungary with a traditionally low (relatively speaking) suicide rate of 25.8. The rates are clearly higher in villages than in the towns. The male/female ratio was close to 4:1, among elderly though only 1.5:1. The high risk groups are the elderly, divorced, and widowed. Violent methods are chosen in 66.4% of the cases. The rates are particularly high in the period April-July. Prior communication of suicidal intention was revealed in 16.3% of all cases. Previous attempts had been undertaken by 17%, which in turn means that 83% of suicides were first attempts. In our material 10% the victims left suicide notes. Psychiatric disorders were present in 60.1% of the cases, and severe, multiple somatic illnesses (including malignomas) were present in 8.8%. The majority of the data resemble those found in the literature.

CLINICAL, ENDOSCOPIC AND PATHOGICAL CHARACTERISTICS OF COLORECTAL CANCER AT DA NANG HOSPITAL FROM 2016 TO 2017

2018 ◽  
pp. 9-14
Author(s):  
Thanh Trung Nguyen ◽  
Duc Nhan Le ◽  
Van Xung Nguyen ◽  
Hieu Trung Doan
Keyword(s):  
Colorectal Cancer ◽  
Descriptive Study ◽  
Bloody Stool ◽  
Key Words Colorectal Cancer ◽  
Right Colon ◽  
Female Ratio ◽  
Histopathological Classification ◽  
Male Female Ratio ◽  
Female Male Female ◽  
Colorectal Cancer Patients

Objective: To study the clinical, endoscopy and pathogical characteristics of colorectal cancer at Da Nang Hospital. Methods: A retrospectively descriptive study, performed from 01/01/2016 to 31/12/2017 at Da Nang Hospital. Results: During two years, there were 205 cases of colorectal cancer patients hospitalized to Da Nang Hospital. Male: 59.51%, female: 40.49%, mean age: 65.8 ± 16.07. Male is higher than female, male/ female ratio is 1.4/1. The period from the first symptoms to admission < 3months predominated (83.8%). The predominant symptoms: Abdominal pain (85.85%), bloody stool (63.41%), defecation (62.44%), anemia (34.63%), weight loss (25.85%), fatigue (17.56%), abdominal distention (12.19%), nausea and vomiting (5.36%). Location of Lesions: Rectum (43.42%), sigmoid colon (20%), right colon (10.73%),cecum (10.73%), transverse colon (7.80%), left-colon (7.32%). Type of lesion on endoscopy: Exophytic (63.41%), ulceration-Exophytic (21.95%), ulceration (7.32%), polyp chemotherapy (7.32). Tumor size: ≥ 3/4 perimeter (39%), occupying the whole circumference (37.0%), occupying ≥ 1/2 perimeter (15.6%), accounting for 1/4 Perimeter (8.4%). The colon completely narrowed rate: 70.73%., incompletely was 29.27%. Histopathological classification: adenocarcinoma (85.85%), Mucinous adenocarcinoma: (9.27%) and non-differentiated epithelial carcinoma was 4.88%. Conclusion: Colorectal cancer was quite popular and was usually detected at advanced stages.Therefore, screening for subjects with risk factors for early detection and treatment is recommended. Key words: Colorectal cancer, endoscopy, pathogical characteristics...

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