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PubMed1973

Holt-Oram syndrome.

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Abnormalities, Multiple↗
PubMed1986

The VATER association. Analysis of 46 patients.

Evaluation of 46 patients with the VATER association indicates that in addition to the major defects seen in this association, numerous other abnormalities occur at lesser frequency. Four of the defects that are not usually associated with the VATER association, namely, inguinal hernias, small intestinal malformations, choanal atresia, and cleft lip and/or palate, were seen at a relatively high frequency in this patient population. Two children possessed defects found in both the VATER and CHARGE associations. The spectrum of defects in the 46 patients in this study also is compared with that in 186 cases derived from the literature.

Abnormalities, Multiple↗
PubMed1986

Analysis of growth in the VATER association.

Analysis of growth in 31 patients with the VATER association showed that 14 (45%) of these patients experienced postnatal growth deficiency (greater than -2 SDs) for at least the first three years of life or beyond. The other 17 patients (55%) had growth that fell within the normal range but which was usually less than the 50th percentile during at least the first three years of life. Severe cardiac defect was present in nine (64%) of the growth-deficient patients and was the only defect that was significantly correlated with growth deficiency. No explanation for the deficiency in growth in the other five children was found. When growth deficiency was present, it was of postnatal onset.

Abnormalities, Multiple↗
PubMed1979

Gastrointestinal anomalies associated with esophageal atresia or tracheoesophageal fistula.

A retrospective analysis of 150 consecutive patients with esophageal atresia and/or tracheoesophageal fistula was undertaken. The incidence and variety of gastrointestinal (GI) anomalies, the method of management, and the cause of death were critically reviewed to outline preferred methods of management. Of these patients, 87 were male and 63 female. There were 62 GI anomalies in 40 patients. The most common GI anomalies included anorectal anomalies in 17 patients, malrotation of the midgut in 13 patients, duodenal atresia or stenosis in ten patients, and annular pancreas and ectopic pancreatic tissue in three patients each. Six patients had the combination of tracheoesophageal fistula, duodenal obstruction, and anorectal anomaly. Of the 150 patients, 23 have died, with 15 deaths occurring in those with associated GI anomalies. The GI anomalies contributed directly to the deaths of five of these 15 patients. Delay in diagnosis and, on occasion, improper initial management resulted in increased morbidity and mortality.

Abnormalities, Multiple↗
PubMed1985

Congenital anorectal malformations. Harbingers of sacrococcygeal teratomas.

Since 1973, seven infants treated at the University of Florida, Gainesville, for congenital anorectal anomalies have been found to have concomitant sacrococcygeal teratomas. As anorectal anomalies occur in approximately one in every 5,000 live births and sacrococcygeal teratomas are noted in one in every 40,000 live births, this presentation would suggest a prevalence that precludes a random association. The presence of significant anorectal strictures in these patients resulted in a delay in the diagnosis of the presacral teratomas. As the frequency of malignant change in sacrococcygeal teratomas has been documented to increase proportionately with age, early diagnosis and excision of these lesions is essential. Our experience with these children suggests that the presence of congenital anorectal malformations in infancy should raise the physician's index of suspicion for associated sacrococcygeal teratomas.

Anal Canal↗
PubMed1996

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

We describe a family which demonstrates and expands the extreme clinical variability now known to be associated with the A-->G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including anal atresia, caudal dysgenesis, and multicystic dysplastic kidneys. His co-twin was normal at birth, but at 3 months of life, presented with intractable seizures later associated with developmental delay. The twins' mother developed diabetes mellitus type I at the age of 20 years and gastrointestinal problems at 22 years. Since age 19 years, the maternal aunt has had recurrent strokes, seizures, mental deterioration and deafness, later diagnosed as MELAS syndrome due to the tRNA(Leu(UUR)) A-->G mutation. A maternal uncle had diabetes mellitus type I, deafness, and normal intellect, and died at 35 years after recurrent strokes. This pedigree expands the known clinical phenotype associated with tRNA(Leu(UUR)) A-->G mutation and raises the possibility that, in some cases, diabetic embryopathy may be due to a mitochondrial cytopathy that affects both the mother's pancreas (and results in diabetes mellitus and the metabolic dysfunction associated with it) and the embryonic/fetal and placental tissues which make the embryo more vulnerable to this insult.

Abnormalities, Multiple↗
PubMed1996

VACTERL association, epidemiologic definition and delineation.

This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants were ascertained by ECLAMC from almost 3,000,000 births examined from 1967 through 1990. Observed association rates among VACTERL components as well as between VACTERL and other defects were compared against randomly expected values obtained from 10,084 multiply malformed infants (casuistic method) from the same birth sample. Conclusions were: 1) Cardiac defects are not a part of VACTERL. 2) Single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies that are secondary to VACTERL components (intestinal and respiratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an "extension" of VACTERL, and cardiac defects should be included in this category. 3) Neural tube defects are negatively associated with VACTERL which could not be explained by selection bias or any other operational artifact. High embryonic lethality or mutually exclusive pathogenetic mechanisms could be suitable explanations. 4) Results were not clear enough to determine whether VACTERL should be defined by at least two or three component defects.

Abnormalities, Multiple↗
PubMed1997

VATERL: an epidemiologic analysis of risk factors.

This work analyzed the incidence of risk factors in 138 cases presenting two or more of five components defining VATERL, with no other recognized unrelated anomalies: vertebral anomalies, anal atresia, esophageal atresia with or without tracheoesophageal fistula, renal anomalies, and preaxial defects of the upper limbs, including polydactyly of the thumb. The 138 infants were ascertained among 1,811,461 births examined in the 1967-1994 period by the Latin-American Collaborative Study of Congenital Malformations: ECLAMC. One healthy and one malformed control newborn infant were matched to each VATERL case. The birth prevalence rates (per 100,000 births) for VATERL were significantly lower in Venezuela (3.1) than in the other eight countries (8.8) (P < 0.001). Venezuela also had lower rates for all five VATERL defects, even after excluding the 138 VATERL cases. VATERL cases were preferentially males (male proportion 0.6261) (P < 0.02), and, when compared with healthy controls, they had a higher perinatal mortality rate (63.7%) (P < 0.005), a higher frequency of fetal losses in previous pregnancies (12.6%) (P < 0.05), and lower mean birthweights (2,361.79 +/- 809.63 g) (P < 0.005). VATERL cases showed a higher rate than matched malformed controls for prenatal exposures to drugs and physical agents (P < 0.02 and P < 0.05, respectively), although no specific pharmacological or physical group was involved. The lower birth prevalence rates found in Venezuela, for VATERL as well as for each of the five congenital anomalies involved in this association, seem to be biologically meaningful. Since we could not identify a potential risk factor, nor a common cause of underascertainment unique to the Venezuelan subsample and common to all six hospitals, no hypothesis can be advanced here for this phenomenon. Nevertheless, this unequal geographic distribution strongly suggests a common etiopathogenicity for the five congenital anomalies involved in the VATERL association.

Abnormalities, Multiple↗