scholarly journals IDENTIFICATION OF MOST COMMON CONGENITAL ABNORMALITY TYPES AMONG NEWBORN INFANTS: A HOSPITAL-BASED STUDY

2021 ◽  
Vol 56 (4) ◽  
pp. 581-586
Author(s):  
Manaf Authman Hreeth ◽  
Omer Q. B. Allela ◽  
Imad Jebur Rashid
Keyword(s):  
Congenital Abnormality ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Newborn Infants ◽  
Full Term ◽  
Male Predominance ◽  
Neurological Abnormalities ◽  
Patau Syndrome

The term “congenital abnormalities” signifies a disruption in the normal process of organogenesis occurring before birth: the earlier the insult, the grosser the abnormality. This research is the largest study aimed at identifying the most common congenital abnormality types among newborn infants in the neonatal care unit (NCU) of the Al-Kadhymia teaching hospital, Baghdad, Iraq. This prospective study was carried out during the period from February 1 to August 1, 2011. A total of 2700 neonates were admitted to the NCU, and 100 newborn infants in the nursery care unit were proven to have congenital abnormalities by physical examination alone. The questionnaire for neonatal evaluation included: gestational age, sex, body weight, and type of congenital anomaly. The results showed that of the total (100) affected neonates, 63 (63%) were full term, 55% had neurological abnormalities, followed by 12% with cleft lip and palate and then 11% with chromosomal abnormalities (most of them had Down syndrome, only 3 cases had Edward syndrome, and 1 case had Patau syndrome). It can be concluded that most of the affected newborns were full term, with a slight male predominance. The incidence of neurological abnormalities was higher than other types of birth defects.

scholarly journals Steno-Fallots tetralogi og Bartholin-Pataus syndrom. En hjertemisdannelse og et misdannelsessyndrom første gang beskrevet af danske anatomer i 1600-tallet

2015 ◽  
Vol 54 ◽  
pp. 197
Author(s):  
Jesper Brandt Andersen ◽  
Niels W. Bruun
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Trisomy 13 ◽  
Latin Text ◽  
Female Fetus ◽  
Left Hand ◽  
Anatomy And Physiology ◽  
Patau Syndrome ◽  
Heart Malformation ◽  
The Right

Jesper Brandt Andersen & Niels W. Bruun: Tetralogy of Steno-Fallot and Bartholin-Patau syndrome. A heart malformation and a malformation syndrome first described by Danish anatomists in the seventeenth century. The heart malformation tetralogy of Steno-Fallot was first described by the Danish anatomist Niels Stensen (Nicolaus Steno) (1638–1686) in Thomas Bartholin’s Acta Medica & Philosophica Ann. 1671 & 1672 in 1673, but this was not discovered until 1942. Stensen’s description was built upon a dissection of a female fetus, which he made during his stay in Paris 1664–1665. We bring the first full Danish translation of Stensen’s Latin text and an analysis of his description in relation to his contemporaries and the present. Stensen describes three of the four elements of the tetralogy described in three adult patients by Fallot in 1888, namely ventricular septal defect, pulmonic stenosis and dexteriority of the aorta. The fact that Stensen does not mention the hypertrophy of the right ventricle may have two good reasons. Firstly, the difference between the wall thickness of the right and left ventricles is generally less pronounced in a fetus than after the birth and this would be expected even more in a heart malformation with overload on the right ventricle.Secondly, Stensen may have considered the right sided hypertrophy as merely a result of the three other elements of the tetralogy than as a malformation in itself.Stensen’s description reveals an impressive knowledge about the circulation of the blood in the heart of a fetus, and we speculate that he may have been the first in history to deliver such a precise description, not only of the anatomy and physiology of the tetralogy of Steno-Fallot, but also of the anatomy and physiology of the blood circulation in the fetal heart. Stensen’s fetus had several other malformations, i.e. cleft lip and palate, schisis of the abdomen and thorax and syndactyly of the second to fifth fingers on the left hand. We suggest that the fetus may have had acrofacial dysostosis 1 (Nager syndrome), which is caused by a mutation on chromosome 1q21.2.Likewise, Stensen’s mentor, the Danish anatomist Thomas Bartholin (1616–1680), was the first to describe a case report of the Bartholin-Patau syndrome in his Historiarum anatomicarum rariorum Centuria III & IV in 1657, but this was not discovered until 1960, the same year as Patau and collaborators showed that this syndrome is caused by trisomy 13. We bring the first full Danish translation of Bartholin’s Latin text with an analysis in relation to his age and the present.

Congenital Palatal Ulcers in Newborn Infants with Cleft Lip and Palate: Diagnosis, Frequency, and Significance

1996 ◽  
Vol 33 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Margit Bacher ◽  
Gernot Göz ◽  
Thinh Pham ◽  
Thomas Ney ◽  
Michael Ehrenfeld
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Newborn Infants ◽  
Posterior Part ◽  
Newborn Period ◽  
Wide Range ◽  
Palatal Plate ◽  
Large Cohort Study ◽  
Decubital Ulcer

Congenital decubital ulcers were found in 94% of newborn infants with unilateral cleft lip and palate in the course of a systematic study of a large cohort study (N = 52). The procedures for diagnosis, documentation, and follow-up are described. The ulceration area at birth varied over a wide range. The ulcerations were usually located in the posterior part of the vomer. Sonographic evidence supports the hypothesis that the ulcerations are caused mechanically by the motor activity of the tongue during the fetal and newborn period. The decubital ulcer disappeared in each case within 5 days following the implementation of a palatal plate.

Infants with Cleft Lip/Cleft Palate

1988 ◽  
Vol 9 (10) ◽  
pp. 331-334
Author(s):  
Lorraine Suslak ◽  
Franklin Desposito
Keyword(s):  
New York ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Autosomal Recessive Inheritance ◽  
Racial Groups ◽  
Genetic Syndromes ◽  
Equal Distribution

A cleft of the lip and/or palate occurs approximately once in 750 live births with some variability among various racial groups. As an isolated defect, cleft lip with or without cleft palate is etiologically distinct from cleft palate alone. More than 250 clefting syndromes, most of them relatively uncommon, have been described. In 1970, less than 3% of all cases of cleft lip and/or palate were thought to be associated with identifiable syndromes. A recent survey from a major cleft palate center in New York showed that 30% of patients had recognizable conditions. Some of these included genetic syndromes and others like the charge association or those related to environmental agents were sporadic. Another 30% of cases had one or more associated anomalies, although a specific syndromic diagnosis or etiologic basis could not be identified. The remaining 40% had isolated clefts. A summary of syndromes with cleft lip and palate by etiology is given in Table 1. Approximately, half of the recognized syndromes are due to single-gene disorders with an equal distribution among autosomal dominant and autosomal recessive inheritance. Chromosomal abnormalities account for 18% of the clefting syndromes and would invariably be associated with other malformations, delayed development, and poor prognosis.

Epidemiological Aspects of Cleft Lip and Cleft Palate

2021 ◽  
Vol 10 (36) ◽  
pp. 3178-3183
Author(s):  
Khursheed Muzammil ◽  
Nazim Nasir ◽  
Atiq Hassan ◽  
Preeti Padda ◽  
Zeba Siddiqui ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Congenital Abnormality ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Family Doctor ◽  
Family Members ◽  
Well Being ◽  
Developmental Defects ◽  
Surgical Interventions ◽  
Epidemiological Aspect

BACKGROUND A new-born baby having a cleft lip alone or a cleft lip with cleft palate is definitely painful to the parents. Such cases must be referred to a multi-disciplinary medical team having expertise in craniofacial defects. The role of a family doctor is significant in these cases as he / she is the one who can minimize the sufferings of the parents and their family members by ensuring antenatal diagnosis and extending support for the whole family post-diagnosis, during initial days of breastfeeding as well as bonding issues and also throughout an extended period of months and years of surgical interventions and speech therapies. These cleft lip and palate deformities are the most typical facial defects in children at birth. This leads to not only the altered appearance, defective speech, improper hearing, retarded growth of the baby but also deranged psychosocial well-being and disrupted social integration of the parents and family members. This article presents an overall epidemiological aspect of the said anomalies in the immense interest & benefit of all the concerned professionals. Patients with cleft lip or palate have significant problems in communication, and face difficulties with deglutition. The understanding of the anatomy and associated pathophysiology play a vital role in the management of these patients. The surgical correction remains the mainstay of treatment to date. This article describes common problems related to kids having cleft lip and palate anomalies and provides the latest surgical options available in such congenital cleft care. The genetic basis of the disease and recent advances in the developmental defects of this congenital abnormality is also discussed. In addition to physical corrections, psychological effects on the family need to be addressed at priority. The treating physician must consider the mental health of the parents. The current concepts of treatment will continue to evolve because of continuous developments in the fields of foetal surgery, genetic and tissue engineering. KEY WORDS Cleft, Lip, Palate, Aperture, Folic Acid, Congenital, Abnormality, Orofacial, Correction, Surgery

Congenital Hand Anomalies, and Their Association with other Congenital Abnormalities

HAND ◽  
1981 ◽  
Vol os-13 (3) ◽  
pp. 267-270 ◽  
Author(s):  
T. Miura
Keyword(s):  
Critical Period ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Cleft Lip And Palate ◽  
Abnormal Development ◽  
Tissue Necrosis ◽  
Internal Organs ◽  
Abnormal Distribution ◽  
Constriction Ring Syndrome ◽  
Hands And Feet

Congenital abnormalities of other parts occurring in patients with congenital abnormalities of the hand were studied. Hands and feet often showed similar anomalies, but there were some cases in which the hands and feet had different kinds of deformity. Anomalies of the internal organs were associated with anomalies of the thumb. Cleft lip and palate occurred in combination with syndactyly, split hand, preaxial Polydactyly and constriction ring syndrome. Combined anomalies may be the result of a genetic or environmental factor interfering with parts developing during the same critical period. The critical period and probable pathogenesis are discussed and the conclusion reached that mesenchymal necrosis, abnormal distribution of mesenchyme and tissue necrosis after mesenchymal condensation may be the pathological changes which lead to abnormal development of the hand.

3D optical digitation applied to orthodontics: analysis of unilateral cleft lip and palate in newborn infants

2000 ◽  
Author(s):  
Fernando Canal ◽  
Jorge Garcia-Mateos ◽  
Jorge Rodriguez-Larena ◽  
Alejandro Rivera ◽  
E. Aparicio
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Newborn Infants

scholarly journals Parents’ Self Esteem of Children with Cleft Lip and Palate

2018 ◽  
Vol 1 (2) ◽  
Author(s):  
Gadis Pratiwi Priyono ◽  
Imas Rafiyah ◽  
Ikeu Nurhidayah
Keyword(s):  
Cleft Lip ◽  
Sampling Method ◽  
Congenital Abnormalities ◽  
Cleft Lip And Palate ◽  
Self Esteem ◽  
Parental Participation ◽  
Study Population ◽  
Role Of Parents

Cleft lip and palate are congenital abnormalities that occur in children. Success in the management and treatment of this disorder requires the role of parents. However, often parents are embarrassed and have low self-esteem, so it would interfere with the success process of treatment and child care with clefts. This study aimed to determine the parents’ self-esteem of children with cleft lip and palate in the Yayasan Pembina Penderita Celah Bibir dan Langit-langit  (YPPCBL) Bandung. This research was a descriptive quantitative study. The study population was parents of children with cleft lip and palate. A total of 30 respondents participated in this study which was chosen with total sampling method. Parental self-esteem was measured using modified instruments based on Coopersmith's theory, with validity values of r = 0.977 and Cronbach's α = 0.989. Data were analyzed using frequency distribution. The results showed 18 respondents (60%) had high self esteem and 12 respondents (40%) with low self esteem. This research would be an evaluation material for YPPCBL Bandung in maintaining and improving parents' self-esteem of children having clefts. With high self-esteem, it is potential for nurses to increase parental participation as a primary caregiver of children with clefts, it would also improve the success of care and children’s quality of life.

scholarly journals Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

2021 ◽  
Vol 6 (3) ◽  
pp. 71-77
Author(s):  
T. V. Khmara ◽  
◽  
M. O. Ryznychuk ◽  
N. B. Kuzniak ◽  
S. P. Melnychuk ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosomal Abnormalities ◽  
Multiple Pregnancy ◽  
The Body ◽  
Craniofacial Anomalies ◽  
Hereditary Syndromes

Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

scholarly journals Congenital cleft of the lip and palate in children: pathogenetical significance of matrix metalloproteinases

2019 ◽  
Vol 19 (2) ◽  
pp. 106-113
Author(s):  
Ayaz E. Mardanov ◽  
I. E. Smirnov ◽  
A. A. Mamedov
Keyword(s):  
Matrix Metalloproteinases ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Maxillofacial Region ◽  
Diagnostic Significance ◽  
Live Births ◽  
New Methods ◽  
Congenital Cleft ◽  
Tissue Matrix

There are presented data about the prevalence offormation of congenital cleft lip and palate (CCLP) - one of the most common birth defects of the maxillofacial region in children. According to WHO the occurrence of children born with CCLP in the world is 0,6-1,6 cases per 1,000 live births, and varies greatly from the region to region and ethnic group residing there. At the same time, in 63,1% of patients there were established chromosomal abnormalities, and in 36,9% - non-chromosomal syndromes. In Russia, every year there are occurred from 3,5 to 5 thousand children with such defects that requires the development of new methods ofprevention of these malformations. There are reported modern views on the pathogenetical and potent diagnostic significance of the evaluation of the content of tissue matrix metalloproteinases (MMPs) and their inhibitors in mechanisms of the formation of CCLP, shown the probable associations of changes in the expression or activity of MMP and TIMP with various forms of malformations of the palate and upper jaw.

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