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At least 19 recordsLinked to original sources
PubMed1978

[Congenital "cardio-esophageal" syndromes. Congenital cardiopathies and multiple abnormalities syndromes in the child with esophageal abnormalities].

A case of esophageal stenosis and tracheo-esophageal fistula associated with dextrocardia due to dextrorotation, ventricular septal defect and complete double arotic arch is reported. In 116 cases of esophageal atresia and tracheo-esophageal fistula 9 had an associated cardiac malformation (4 right-sided aortic arch and 4 ventricular septal defects). The possible individualization of multiple abnormality syndromes in which these two types of malformations are associated with others such as vertebral arch defects, limb anomalies, imperforate anus, etc. is discussed. These are so-called "Vater" or "Vactel" syndromes.

Abnormalities, Multiple↗
PubMed1975

[Complex rearrangement of chromosomes 3 and 5 in an adolescent with multiple abnormalities].

Cytogenetic studies were performed on a severely mentally retarded adolescent with multiple congenital abnormalities (congenital heart disease, cryptorchidism and infantilism, rocker bottom feet and eye abnormalities). He had a complex rearrangement as a result of three breaks of chromosome 3 and two breaks of chromosome 5, and haphazard reunion of the fragments. This complex rearrangement appears balanced. The loss of very small chromosome fragments is perhaps the cause of the dysmorphia. The possibility of position effect is discussed.

Abnormalities, Multiple↗
PubMed1979

Multiple genitourinary abnormalities in females with unilateral renal agenesis: three cases.

We have the means to identify over 75% of infants and children with unilateral renal agenesis. It has been established that all patients with unilateral renal agenesis must be followed closely because of problems with the remaining kidney and other anomalies. It is apparent from embryologic studies and numerous reports that up to 89% of females with unilateral renal agenesis are likely to have significant accompanying genitourinary abnormalities. Most of these patients' genital problems occur at the time of puberty or pregnancy. Because of our experience with three teenage females who had unilateral renal agenesis and subsequent serious problems, we wish to advocate a prepubertal aggressive investigation.

Abnormalities, Multiple↗
PubMed1977

Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.

A 3 1/2-year-old boy was referred for chromosomal evaluation because of mental and developmental retardation, peculiar facies, and abnormalities of the extremities. Karyotype analysis disclosed the presence of 46 and 47 chromosome cell lines. The 46 chromosome line contained 4 normal G group chromosomes and an abnormally small Y identified by G banding. Further investigation with Q and C band techniques revealed that the missing segment of the Y, the distal long arm, had been translocated to the end of the long arm of a number 6 chromosome. This de novo rearrangement appeared to be balanced and was found in all cells examined. The 47 chromosome line, which had a frequency of 10% in the patient's leucocytes, was identical to the 46 line except for the presence of an additional copy of the small chromosome. The morphology and banding patterns of the two small acrocentrics in the aneuploid line were found to correspond to those of the der (derivative) Y in the euploid line. The cytogenetic findings suggest that the translocation was followed by non-disjunction of one of its products resulting in mosaicism. Possible causes for the clinical and karyotypic abnormalities are discussed.

Abnormalities, Multiple↗
PubMed1978

Incomplete testicular feminization with multiple congenital abnormalities.

A female infant presented with absent vagina and uterus, absent left kidney, absent right gonad, growth failure, mental retardation, seizure disorder, and facial, limb, and hand anomalies. The chromosome karyotype was 46, XY in her blood and cultured cells, including cells from the sites of both gonads. Her H-Y antigen was positive. Specific dihydrotestosterone binding was reduced in cells from a labial skin biopsy. The case might be due to a minute deletion of the short arm of the X chromosome, resulting in loss of a gene for androgen receptors and of adjacent chromosomal material responsible for the growth failure and the somatic and neurologic anomalies.

Abnormalities, Multiple↗