There is no reported instance of a malformed child born to a woman who ingested pure LSD; there are six cases of malformation associated with exposure to illicit LSD, four of which have similar limb defects.
To determine whether such congenital cardiac malformations are part of the disease spectrum of genetically determined ASH, cardiac pathologic observations were made in eight patients with disproportionate septal thickening (ventricular septal to posterobasal left ventricular free wall thickness ratios of 1.5 to 2.5) and the following three categories of associated lesions: 1) parachute deformity of the mitral valve (occurring either as an isolated lesion or with ventricular septal defect, coarctation of the aorta, supravalvular ring of the left atrium, or double outlet right ventricle); 2) complete interruption of the aortic arch; and 3) ventricular septal defect.
To determine whether such congenital cardiac malformations are part of the disease spectrum of genetically determined ASH, cardiac pathologic observations were made in eight patients with disproportionate septal thickening (ventricular septal to posterobasal left ventricular free wall thickness ratios of 1.5 to 2.5) and the following three categories of associated lesions: 1) parachute deformity of the mitral valve (occurring either as an isolated lesion or with ventricular septal defect, coarctation of the aorta, supravalvular ring of the left atrium, or double outlet right ventricle); 2) complete interruption of the aortic arch; and 3) ventricular septal defect.
Hemihypertrophy is a condition that has been described in association with a variety of other malformations and diseases; quite often these have had a renal origin.
Data are presented suggesting that the association between the biosynthesis of neurophysin I and AVP on the one hand, and neurophysin II and OT on the other hand is maintained in patients with isolated AVP deficiency on the basis of a congenital defect.
Study of the incidence and segregation of the serologically detectable A and B products of the HLA complex in 140 family units in which one or more offspring was afflicted with a developmental craniofacial anomaly has uncovered no evidence of an association between HLA-A or B antigens or haplotypes and the malformations under study.
Esophageal atresia with or without tracheoesophageal fistula (EA +/- TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies.
Special attention is paid to the application of the studies on AFP microheterogeneity for the prenatal diagnosis of developmental malformations and for the differential diagnosis of some cancers.
Molecular heterogeneity of antithrombin III (AT III) was investigated by a technique of crossed immunoelectrofocusing (CIEF) in plasma samples of patients from 16 families with AT III congenital defect, including 8 AT III molecular variants.
A pronounced enrichment of EPO was observed in cysts with sodium concentrations greater than 100 mmol/liter, suggesting an association with proximal tubular malformations.
The coexistence of these major malformations with heart disease raises the possibility of incomplete expression of the VA(C)TER (vertebral, anal, cardiac, tracheal, esophageal renal) association.
The Cardiff survey did show a significant relationship between ACP-1 genotypes and the presence or absence of congenital abnormalities, but since this was largely attributable to an excess of ACP-1 CA individuals with abnormalities, a category with a small expected value, further data are required to confirm the validity of this observation.
The Cardiff survey did show a significant relationship between ACP-1 genotypes and the presence or absence of congenital abnormalities, but since this was largely attributable to an excess of ACP-1 CA individuals with abnormalities, a category with a small expected value, further data are required to confirm the validity of this observation.
The gene for human high-mobility-group (HMG) chromosomal protein HMG-14 is located in region 21q22.3, a region associated with the pathogenesis of Down syndrome, one of the most prevalent human birth defects.
This study compares the segregation of the ABO and Rh systems between malformed newborns and a control group with two purposes: (1) to evaluate the participation of genetic factors associated with these blood groups in the production of congenital malformations, and (2) to prove, indirectly, the existence of reproductive losses associated with congenital malformations.