Association Of Congenital Anomalies Research Articles

Mental Retardation among Children Born with Birth Defects

Mental retardation (MR) is a major health problem affecting 3% of the population. It results from the interaction of many genes and non-genetic factors. However, in up to 60% of patients the aetiology remains unclear. The aim of the study is to examine the association of birth defects and MR, taking into consideration the type of birth defect, level of MR, co-occurrence of MR with other developmental disabilities, genetic and biological risk factors. A case control study was conducted on 300 children with MR from December 2006 to December 2007. They were referred to the Human Genetics Department, Medical Research Institute, University of Alexandria, for diagnosis and genetic counseling. For comparison, 506 normal control groups were randomly selected. The cases were 156 males (54%) and 135 females (46%), the difference was not statistically significant. Out of 300 studied cases, 72 children (24%) had various chromosomal aberrations, while the remaining 228 (76%) had single gene disorder. From these groups 66 children had another coexisting DDS (25 with CP, 15 had VL, 10 with autism; 10 HL and 6 had epilepsy). Mild MR (MMR) was more prevalent among all the studied cases than severe MR (SMR), there was significant association between SMR and birth defects (OR = 1.85, CI: 1.05-3.27). Birth defects occurred in 180 children (40 children with Down syndrome, 1 with sex chromosomal defect, 3 with other chromosomal anomalies, and the remaining 136 with non-chromosomal abnormalities). There was significant association between children with Down syndrome and birth defects (OR=10; CI: 1- 242.25). Birth defects were present in 41 children with MR and other coexisting DDs. Also, it was found that all children with different birth defects had significant association with MR, (OR = 87.21; CI: 40.38-196.31). These MR risks tended to be the largest among infants born with heart and central nervous system defects. There was significant association between low birth weight (OR = 3.57; CI: 1.91-6.65), preterm (OR = 9.63; CI: 2.21-47.84), and parental consanguinity (OR = 4.19; CI: 2.9-6.06) and the occurrence of MR. This study high-lights the role of prenatal factors in the origin of many DDS especially MR and suggests that a sizable proportion of DDS may be caused by insults occurring early in embryologic development.

Association of congenital anomalies and umbilical cord cysts

Association of congenital anomalies and umbilical cord cysts

A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus

We report a boy with a rare association of congenital anomalies including facial dysmorphism with a very large fontanel and cleft palate, thoracic deformity, right-sided aortic arch, hypoplastic genitals, abdominal wall hypoplasia and a very rare umbilical abnormality, previously unreported. All anomalies are positioned on the midline suggesting a midline ventral developmental field defect. Different diagnoses were considered in this patient, including the pentalogy of Cantrell and Donnai-Barrow syndrome. However, none can account for all the abnormalities seen.

The Association of Birth Defects and Failure to Thrive. † 444

The Association of Birth Defects and Failure to Thrive. † 444

Epidemiological analysis of the association between two congenital anomalies in the same child: A method for adjusting nonspecific clustering

Most of the methods proposed to analyze patterns of congenital anomaly clusters have been criticized because large observed/expected (O/E) ratios are obtained for many defect combinations, suggesting that the association of congenital defects is a generalized and nonspecific tendency. To avoid this problem, two methods have been proposed: (1) the analysis of the association of two defects in the subgroup of infants with only multiple congenital anomaly (MCA) patterns, and (2) a method for adjusting the O/E ratio for the nonspecific tendency of defects to cluster among themselves. However, neither of these methods analyzes the association of only two particular defects in a child who apparently has no other anomalies apart from the two that are being analyzed. Here we present a method that analyzes the association of two particular defects, when they are the only defects observed in the child. The method is tested on the Spanish Collaborative Study of Congenital Malformations (ECEMC) data base. The proposed method also controls for the tendency of nonspecific defect clustering. © 1996 Wiley-Liss, Inc.

Epidemiological analysis of the association between two congenital anomalies in the same child: a method for adjusting nonspecific clustering.

Most of the methods proposed to analyze patterns of congenital anomaly clusters have been criticized because large observed/expected (O/E) ratios are obtained for many defect combinations, suggesting that the association of congenital defects is a generalized and nonspecific tendency. To avoid this problem, two methods have been proposed: (1) the analysis of the association of two defects in the subgroup of infants with only multiple congenital anomaly (MCA) patterns, and (2) a method for adjusting the O/E ratio for the nonspecific tendency of defects to cluster among themselves. However, neither of these methods analyzes the association of only two particular defects in a child who apparently has no other anomalies apart from the two that are being analyzed. Here we present a method that analyzes the association of two particular defects, when they are the only defects observed in the child. The method is tested on the Spanish Collaborative Study of Congenital Malformations (ECEMC) data base. The proposed method also controls for the tendency of nonspecific defect clustering.

New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome)

We report on two unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, who died at 4 months of age. Both mothers reported an upper respiratory infection during the first trimester of pregnancy which was further complicated by polyhydramnios in the third trimester. The infants were diagnosed with bilateral congenital nuclear cataracts at birth. Serologic tests for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia screens were negative. Chromosome analyses were normal. Both children developed communicating hydrocephalus between one and three months after birth. Patient 1 died suddenly at 4 months following an upper respiratory infection. Patient 2 developed congestive heart failure and also died at 4 months. At autopsy, both infants had enlarged hearts with endocardial fibroelastosis. No identifiable organism could be isolated. We discuss the association of birth defects in widely separated organ systems in these patients and suggest that this may represent a genetic syndrome; however, a viral etiology cannot entirely be excluded. We believe this is a distinct disorder and propose the acronym HEC for hydrocephalus, EFE and cataracts.

Fanconi anemia, dyskeratosis congenita, and WT syndrome

The association of congenital anomalies and pancytopenia is encountered in several clinical syndromes. Among these, Fanconi anemia is by far the most prevalent, and consequently best known. As a result, other similar conditions, such as dyskeratosis congenita and particularly WT syndrome, are often mistaken for Fanconi anemia. However, at a closer look, the type of congenital anomalies, the mode of inheritance, cytogenic and other laboratory findings allow clear differentiation between these 3 syndromes.

Teratogenicity of anticonvulsant drugs. II: A prospective study.

To 468 women with epilepsy enrolled in the study, 171 children were born and evaluated prospectively. The mothers in this group were characterized by low socioeconomic status, high frequency of tonic-clonic generalized seizures, and use of combinations of anticonvulsants. Approximately 30% of infants exposed to diphenylhydantoin in utero had minor craniofacial and digital changes. The infants did not show an increased rate of growth retardation, mental retardation, or major malformations. It is suggested that the nature of the association of birth defects and maternal epilepsy is complex and that the teratogenicity of anticonvulsant drugs plays only a minor role in this association. The sample size necessary to demonstrate a two- to threefold increase in malformations is beyond the capability of a single center.

Antenatal diagnosis of acephalus acardia: A proposed management scheme

The known association of congenital anomalies with hydramnios has underscored the necessity for careful ultrasound evaluation of the intrauterine contents. Numerous studies and case reports have demonstrated the usefulness of ultrasound in diagnosing the more common congenital abnormalities, as well as the unusual ones. The ability to diagnose these entities and alter both the antenatal and intrapartum management of afflicted fetuses has yielded a variety of new approaches to perinatal care. We present two cases of

Elastosis Perforans (Perforating Elastosis): The Association of Congenital Anomalies, Salient Facts in the Histology, Studies of Enzyme Digestion and A Report of Necropsy in a Case

Elastosis perforans is a distinctive dermatologie entity, presenting patches of small, keratotie, pale to deep red papnles, arranged in ares and lines, appearing most commonly on the necks of pre-adoleseent boys. First described in 1953 by Lntz (1), as keratosis follicularis and retitled elastoma intrapapillare perforans verruciforme by Mieseher (2), the condition has received considerable attention in the recent dermatologie literature (3—5). Dammert and Putkonen (6) suggested the term, perforans serpiginosa, as being more appropriate and less cumbersome than Mieseher's term (2), a view with which Hitch and associates (5) concurred. We consider even this term to be somewhat unwieldy, and prefer simply perforans, or perforating elastosis. In January 1959, Woederman and Scott (3) listed 15 eases that had appeared in the literature up to that time, and they presented reports and discussions of two new eases from Holland. Two months later, from England, Haber (4) listed nine eases not included by Woederman and Scott and described five additional eases, while Hitch and associates (5) published the first five American eases the next month. The number of eases reported in the world literature (including those reported here) at the time of our report thus totaled 39. We wish to present two additional patients with this condition, one of whom is of particular interest since he exhibited a number of congenital ectodermal and mesodermal anomalies, the association of which may be of significance in this condition. In addition as a consequence of an unrelated farm accident, we are able to present neeropsy findings concerning this patient. The histologic aspects of elastosis perforans have been