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PubMed1975

[Dermatoglyphics of the relatives of children with congenital defects in development].

The localization of an axial triradius and the flexor creases were studied in 173 phenotypically normal mothers and 104 fathers of congenitally malformed children. The most pronounced changes ofdermatoglyphics were found in the parents of children with polygenic determined defects, less pronounced ones-- in the parents of children with multiple congenital non-chromosomal defects and with Down's syndrome. The frequency of the pathological features studied was similar both in children with polygenically determined isolated defects and with Down's syndrome. The frequency of the pathological determined isolated defects and in their parents. In multiple congenital defects and in Down's syndrome the abnormalities ofof the localization of an axial triradius and of the flexor creases were found in children more frequently than in the parents. It is suggested that the above mentioned peculiarities of parental dermatoglyphics may be useful for the genetic counsleling.

Abnormalities, Multiple↗
PubMed1997

Congenital defects in northern elephant seals stranded along the central California coast.

Eleven cases of congenital anomalies were identified in 210 (5%) juvenile northern elephant seals (Mirounga angustirostris) found stranded along the central California (USA) coast from 1 January 1988 to 31 December 1995. Seven individuals had mild-to-moderate hydrocephalus involving the lateral ventricles bilaterally, or the lateral and third ventricles. Two animals had severe cardiac anomalies: hypoplasia of the right ventricle with overriding aorta, and ventricular septal defect. Other anomalies included single cases of hydronephrosis, focal pulmonary dysplasia, and congenital epidermal angiomatosis. Common intercurrent disease processes were verminous pneumonia and arteritis, verminous enteritis and coliti, and splenic and hepatic hemosiderosis. The more severe anomalies were considered to be the cause of debilitation and stranding. Milder anomalies were found incidentally during routine gross necropsy and histopathologic examination.

Angiomatosis↗
PubMed1981

[Dissection of the heart in congenital defects].

The paper describes a method for opening the heart at autopsy and for pathological examinations of normally formed hearts, both with acquired and congenital diseases. The method is based on leaving the cardiac fibrous skeleton nondissected. This preserves the anatomical integrity of the intracardiac structures and their natural connections which is extremely important for pathological examination of the heart and its major vessels in congenital heart diseases, particularly in their complicated and rare types.

Autopsy↗
PubMed1994

Congenital defects of the posterior arch of the atlas: a report of seven cases including an affected mother and son.

PURPOSE: To describe our experience with congenital anomalies of the posterior arch of the atlas, with a review and classification of these defects and a note on their clinical significance. METHODS: We report six children and one adult, the mother of one of the children, with an anomalous posterior arch of the atlas. The diagnosis was made on lateral films of the neck. Three patients also had axial CT of the cervical spine. RESULTS: The anomalies encountered in the seven patients were absence of the posterior arch of the atlas (four patients), bilateral clefts (two patients), and unilateral cleft (one patient). In three patients the anomaly was discovered as an incidental asymptomatic finding; three other patients presented with transient neck pain or transient neurologic symptoms after head and neck trauma, and one patient (an adult woman) described neck symptoms of 1-year duration. CONCLUSIONS: On the basis of these seven cases we conclude that congenital defects of the posterior arch of the atlas may be discovered as incidental asymptomatic findings, but symptoms occurring after trauma to the head and neck or spontaneously also may be encountered.

Adult↗
PubMed2003

[Electrocardiographic picture in patients with congenital defect of atrial septum operated upon in adult age].

Electrocardiograms from 30 patients with congenital atrial septal defect operated upon in adult age were analyzed. One of frequent variants of QRS configuration in standard leads was SIqIII type. It was observed in 50% of patients. Most frequent (in 67% of patients) variants of QRS configuration in lead V1 were rSr' and rSR'. Signs of right ventricular hypertrophy were most often found in a group of patients with high pulmonary hypertension. Changes of terminal portion of ventricular complex such as negative or biphasic T waves were found in 29 of 30 patients (in 63% of cases these changes were localized in leads V1-V3).

Adult↗
PubMed2005

The methodology of the Utah Birth Defect Network: congenital heart defects as an illustration.

OBJECTIVES: The Utah Birth Defect Network (UBDN) uses a population-based birth defect surveillance system that has evolved from identifying only neural tube defects in 1994 to monitoring all structural malformations since 1999. All pregnancy outcomes are monitored statewide through intensive identification of potential cases using multiple reporting sources. METHODS: The UBDN is a well-established statewide surveillance system that uses a combined approach, active and passive, in case ascertainment. Utah has the distinct advantage of having relatively few points of entry into the health care system both pre- and postnatally. A description of the UBDN methodology is presented and the completeness, validity and timing of reporting sources and diagnoses are illustrated using the example of congenital heart defects (CHD). RESULTS: The UBDN identified a total of 2,115 potential CHD cases, of which 1,082 (51.2%) were determined to be true cases and 1,033 (48.8%) were classified as not a case (NAC). A single source was responsible for reporting 1,038 (49.1%) potential cases:241 (23.2%) were true cases, and the remaining 797 (76.8%) were classified as NAC and considered to be false positives. DISCUSSION: This descriptive analysis of CHD cases collected through the UBDN's surveillance system illustrates the necessity--and benefit--of using multiple sources of ascertainment to ensure completeness of reporting.

Birth Certificates↗
PubMed1997

[The quadri-cusp aortic valve: a congenital defect, responsible for pathologic changes?].

We report on a 61-year-old patient with considerable insufficiency of a quadricuspid aortic valve and coronary three vessel disease. The congenital quadricuspid aortic valve has become symptomatic due to the development of (post-endocarditic) insufficiency only in the advanced stage of life. It was treated by replacement of the aortic valve and bypass myocardial revascularization. The physiopathology of quadricuspid aortic valve will be discussed.

Aortic Valve↗
PubMedDate not supplied

Surgical treatment of congenital arteriovenous defects.

Congenital vascular arteriovenous malformations can be treated by surgery in the majority of cases. Contraindications for surgical correction are only slight cases and very few of the severe cases in which amputation is the only possibility of treatment. After illustrating guidelines for surgical strategy, tactics and techniques of operative treatment are discussed. Results obtained in 52 cases are demonstrated.

Arm↗
PubMed1980

[Elongation of the femur in congenital defect (author's transl)].

The various forms of congenital abnormality of the femur usually require combined conservative and operative procedures over a long period of time. Operative treatment depends essentially on the morphological findings. The literature is discussed. The authors present a case in whom the pseudoarthrosis can be utilised to obtain femoral lengthening and the operative detail is discussed.

Adolescent↗
PubMed1994

Congenital defects as a cause of perinatal mortality of beef calves.

Congenital anomalies occur at low levels in beef cattle. Usually, severe defects result in abortion of the calf or return to service. In cases that do reach term, however, some die while others may survive with or without assistance from the manager. Regardless of whether the calf survives, the fact that abnormal development occurred raises questions as to etiology of the defect(s) and its impact on the herd. By defining the defect and using a logical method of assessing the cause, one can assess the impact of that defect on future herd production.

Animals↗
PubMed1997

Late toe-to-hand transfer for the reconstruction of congenital defects of the long fingers.

Toe-to-hand transfer is a well established procedure and is one of the best ways of reconstructing the missing fingers or parts of fingers. In congenital deformities of fingers and hands such as absence of digits, second toe transfer may create the grip function and is superior to all other procedures. We present three cases of four second toe transfer to reconstruct long finger defects after congenital malformations of the long fingers. The aim of this paper is to discuss some aspects of the procedure and to evaluate achieved results. All our four patients were operated on when they were over 10 years of age.

Adolescent↗
PubMed2006

[Frequency and layout of congenital defects in infants born from 1991 to 1995 and from 2000 to 2004 at the Obstetrics and Gynecology Department of Wolomin District Hospital].

OBJECTIVE: The aim of the study was an evaluation of the frequency and distribution of congenital malformations in infants born at the Obstetrics and Gynecology Department of Wołomin District Hospital in the years 1991-95 and 2000-2004 and a comparison of occurrence frequency of defects' types in the analyzed periods. METHODS: The study comprises an evaluation of documentations of 5649 infants born in the years 1991-1995 and 6049 infants born in the years 200-2004, 11698 infants in total. In the study groups of infants, the frequency of congenital malformation occurrence was analyzed. RESULTS: The majority of congenital malformation diagnosis in the years 1991-1995 were CNS defects with 21% and the second most frequent group were facial skeleton defects with 16% The majority of congenital malformation diagnosis in the years 2000-2004 were osteoarticular system defects (25%) and the second most frequent group were organic heart diseases with 14%. CONCLUSIONS: The frequency and distribution of congenital defects was comparable with data provided by other authors. The most frequent defects were osteoarticular system defects, congenital hart dsefects and CNS. An increase in number of defects of the osteoarticular system was observed.

Abnormalities, Multiple↗
PubMed1981

Congenital defects of the abdominal wall.

We reviewed a 22 year experience with 138 newborn infants with congenital evisceration through defects of the abdominal wall. Omphalocele is a large defect which always has a sac, in which the rectus muscles insert laterally on the costal margins and which usually has associated anomalies. Cord hernia is a small defect which always has a sac, in which the rectus muscles insert at the xiphoid and which commonly has associated anomalies. Gastroschisis is a small defect which never has a sac, in which the rectus muscles insert at the xiphoid and has few associated anomalies, though prematurity is frequent. We hypothesize that gastroschisis develops because the umbilical coelom fails to form, which forces the elongating midgut to rupture into the amniotic cavity. This differs from the embryogenesis of omphalocele, which is failure of closure of a primary body fold, and from that of cord hernia, which is failure of the midgut to return from the umbilical coelom. The number of infants in this series who survived after surgical repair of an omphalocele was 31 of 51 patients; of a cord hernia, 22 of 28 patients, and of gastroschisis, 40 of 59 patients. Factors contributing to mortality were associated anomalies, low birthweight and surgical closure under excessive tension.

Abdominal Muscles↗