Agenesis of the epiglottis and false vocal folds with maxillary hypoplasia in an adult

2003 ◽  
Vol 117 (11) ◽  
pp. 895-898 ◽  
Author(s):  
Ki Hwan Hong ◽  
Yoon Soo Yang
Keyword(s):  
Congenital Anomaly ◽  
Early Childhood ◽  
Congenital Anomalies ◽  
Vocal Folds ◽  
Feeding Problems ◽  
Multiple Congenital Anomalies ◽  
Maxillary Hypoplasia ◽  
Organ Systems ◽  
Infancy And Early Childhood ◽  
False Vocal

Hypoplasia or absence of the epiglottis in an adult is a rarely reported congenital anomaly that usually occurs in association with congenital anomalies of other organ systems. Most epiglottic anomalies usually present in infancy and early childhood with respiratory and feeding problems and the affected individual dies shortly after birth due to multiple congenital anomalies. We present a case of congenital absence of the epiglottis and false vocal folds with hypoplastic maxillae in an adult.

scholarly journals Clinical Characteristic of Congenital Fetal Anomaly In Tertiary Referral Hospital in East Java, Indonesia

2021 ◽  
Vol 2 (2) ◽  
pp. 40-46
Author(s):  
Fariska Zata Amani ◽  
Wardhana M. P ◽  
Cininta N. I ◽  
Aryananda R. A ◽  
Gumilar K. E ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
General Hospital ◽  
Congenital Anomalies ◽  
Neonatal Morbidity ◽  
Tertiary Hospital ◽  
Fetal Anomaly ◽  
Fetal Anomalies ◽  
Tertiary Referral Hospital ◽  
Cross Sectional ◽  
Organ Systems

Background: Congenital fetal anomalies were defined as any structural defect present at birth. Congenital fetal anomalies are an important causes of neonatal morbidity and mortality in developed and developing countries that affect health care system. Reliable data on these congenital anomalies are still lacking, especially in Indonesia. Objective: This study aims to determine the characteristic profile of congenital fetal anomaly in single tertiary hospital in East Java, Indonesia. Methods: Retrospective cross-sectional by using medical record data of dr. Soetomo General Hospital on January – December 2017. Results: There were 58 cases (4,3%) with fetal congenital anomaly from 1360 deliveries in 2017. The majority of cases were referral cases (51 cases; 88%) and only seven cases were booked cases in obstetric outpatient dr. Soetomo General Hospital. Most of these congenital fetal anomaly cases ( 25 cases / 43,1%) were born from mother with ages 20 – 30 years old. Most cases (34 cases; 58,64%) were diagnosed first at third trimester (gestational age > 28 weeks). There were 36 cases (62%) had active termination of pregnancy. Thirty eight percent (22 cases) were born at 37-42 weeks and majority were born section caesaria. The three highest proportion of organ systems involved in fetal congenital anomalies were those of abdomen (22 cases; 37,9%); head (20 cases; 34,5%); thorax and muskuloskeletal (each 12 cases; 20,7%). Conclusion: The incidence of congenital fetal anomaly in dr. Soetomo Hospital at 2017 was 4,3%. Omphalocele and CTEV were two most common types of congenital fetal anomaly found. Most cases of congenital fetal anomalies have a poor prognosis, 67% cases born died. Further research about  risk factors and comprehensive database are needed on cases of congenital anomaly to establish appropriate prevention and management.

Adrenal Fusion

1998 ◽  
Vol 1 (6) ◽  
pp. 475-479 ◽  
Author(s):  
Edward C. Klatt ◽  
Theodore J. Pysher ◽  
Zdena Pavlova
Keyword(s):  
Congenital Anomaly ◽  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Adrenal Glands ◽  
Renal Agenesis ◽  
Multiple Congenital Anomalies ◽  
Rare Congenital Anomaly ◽  
Internal Genitalia ◽  
Adrenal Hypoplasia

Fusion of the adrenal glands is a rare congenital anomaly. The six cases described here were encountered in 3537 pediatric-perinatal autopsy cases. A fused adrenal was always associated with multiple congenital anomalies, including major central nervous system malformations in four cases, renal agenesis in three cases, anomalies of internal genitalia in three cases, and complex cardiac anomalies in two cases. The fused adrenal had either a horseshoe or butterfly shape. Neither adrenal hypoplasia nor hyperplasia appeared to be present, and the histologic appearance of the fused adrenal was normal in all cases.

scholarly journals Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark

2021 ◽  
Vol 9 ◽  
Author(s):  
Marlene E. Toxværd ◽  
Ester Garne
Keyword(s):  
Congenital Anomalies ◽  
Detection Rate ◽  
Screening Program ◽  
Multiple Congenital Anomalies ◽  
Genetic Syndrome ◽  
Prenatal Detection ◽  
Single Defect ◽  
Organ Systems ◽  
Before And After ◽  
Prenatal Detection Rate

Surveillance of congenital anomalies is important in order to detect negative influences from environment, medication, or lifestyle as early as possible. Since most teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase due to environmental or medicine exposure. The aim of the study was to describe changes in prevalence, types of anomalies, and outcome of pregnancies for fetuses and infants with multiple congenital anomalies before and after introduction of the new screening program in the County of Funen, Denmark. The study was based on data from the EUROCAT registry of the County of Funen for the period 1990 to 2014 covering 135,057 births. The registry includes information about livebirths, fetal deaths after 20 weeks of gestation and terminations of pregnancy after prenatal diagnosis of fetal anomalies. All cases with two or more major congenital anomalies in different organ systems, where the pattern of anomalies were not recognized as part of a chromosomal or genetic syndrome or a sequence were included in the study. Overall prevalence of multiple congenital anomalies was 19.7 per 10,000 pregnancies. There was no significant change in prevalence over time. The prenatal detection rate increased from 26 to 57% after introduction of the screening program (p < 0.001). Proportion of terminations of pregnancy increased from 11 to 30% of all cases and 1-week survival for livebirths increased from 64 to 94%. There was no change in combinations of involved organ systems. The implementation of the new screening program in 2004 has led to an increased prenatal detection rate of multiple congenital anomalies followed by an increased rate of termination of pregnancy for the most severe cases and an increased 1-week survival for liveborn infants with multiple congenital anomalies.

scholarly journals Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Przemyslaw Kosinski ◽  
Milena Greczan ◽  
Aleksandra Jezela-Stanek
Keyword(s):  
Congenital Anomaly ◽  
Literature Review ◽  
Diaphragmatic Hernia ◽  
Congenital Anomalies ◽  
Autosomal Recessive ◽  
Lung Hypoplasia ◽  
Multiple Congenital Anomaly ◽  
Multiple Congenital Anomalies ◽  
Exact Etiology

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome, with diaphragmatic defects and secondary lung hypoplasia as cardinal features. Despite it was reported first in 1979, its exact etiology has not been established to date. With this review, we would like to draw attention to the prenatal presentation of multiple congenital anomalies syndromes, resulting from defects in the synthesis of glycosylphosphatidylinositol anchors, to be considered in a prenatal assessment of fetuses with DH and Fryns-like phenotype.

scholarly journals A rare case of a complex of multiple congenital anomalies diagnosed using computed tomography in a male puppy

2018 ◽  
Vol 63 (No. 1) ◽  
pp. 50-53
Author(s):  
SW Bae ◽  
DJ Chung ◽  
WH Chung ◽  
NW Park ◽  
CY Lim ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Congenital Anomaly ◽  
Congenital Malformation ◽  
Surgical Procedures ◽  
Congenital Anomalies ◽  
Rare Case ◽  
Clinical Signs ◽  
Urogenital Tract ◽  
Multiple Congenital Anomalies ◽  
Rare Congenital Anomaly

A 50-day-old male Maltese puppy was presented with difficulty in defaecation. Based on the clinical signs, and physical and radiographic examinations, including computed tomography, his condition was diagnosed as hypospadias, along with atresia ani and urethrorectal fistula. Hypospadias is a congenital malformation of the urethra that is relatively uncommon in dogs, while atresia ani is a rare congenital anomaly of the rectum and anus. An additional anatomic abnormality that can be associated with atresia ani is a fistula between the urogenital tract and rectum. After appropriate surgical procedures, the puppy recovered and defaecation via the anus was restored.

Feeding problems in infancy and early childhood: evolutionary concept analysis

2016 ◽  
Vol 73 (1) ◽  
pp. 56-70 ◽  
Author(s):  
Hayley H. Estrem ◽  
Britt F. Pados ◽  
Jinhee Park ◽  
Kathleen A. Knafl ◽  
Suzanne M. Thoyre
Keyword(s):  
Early Childhood ◽  
Concept Analysis ◽  
Feeding Problems ◽  
Infancy And Early Childhood
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