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Esophageal atresia or tracheo-esophageal fistula (EA/TEF) often occurs in association with a well-defined group of other anomalies. We report the prevalence of malrotation and other intestinal anomalies in a large data series comprising 632 nontrisomic infants with EA/TEF ascertained by the California Birth Defects Monitoring Program from January 1, 1983 to December 31, 1994. Consistent with findings reported previously in smaller case series, our findings showed a notable prevalence of imperforate anus (9.0%) and duodenal atresia (5.2%), among other gastrointestinal defects. They also showed a previously unrecognized high prevalence of intestinal malrotation (4.4%). Compared with other infants studied, the infants with EA/TEF and malrotation of the intestine had a higher proportion of other associated anomalies (in particular intestinal, central nervous system, vertebral and rib, renal and genital anomalies). These findings indicate that intestinal malrotation is more common in infants with EA/TEF than is generally perceived, and that intestinal malrotation in an infant with EA/TEF is associated with a higher burden of additional congenital anomalies, suggesting that this group of infants may have more pervasive developmental deficits and poorer prognosis than has previously been recognized.

We administered measures of cognitive, frontal lobe (executive), behavioral and motor functioning to 18 children with classical phenylketonuria, aged 12-101 months, in order to determine the relationship of age, current and lifetime average phenylalanine levels, and individual variation (standard deviation of lifetime average levels) to these functions. On measures of cognitive function, in childrenor = 3 y of age lower current phenylalanine levels were associated with higher cognitive functioning. On a behavioral temperament scale designed for normal children, we found that higher current and average phenylalanine levels correlated with more difficult temperament. Motor function was also poorer in children with phenylketonuria, and was most impaired in children with current phenylalanine levels360 micromol/l. We also identified a previously unreported correlation between increased individual variation and poorer executive function performance, a finding that may raise new management concerns about level fluctuations. Maintenance of phenylalanine levels360 micromol/l may be necessary for optimal performance in children with phenylketonuria.

We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).

The ectodermal dysplasias are a heterogeneous group of conditions primarily affecting the hair, teeth, nails, and skin, and are classified according to the tissue(s) affected. The classification categories are: (1) abnormalities of hair, (2) dental defects, (3) abnormalities of nail morphology, and (4) dyshidrosis. Individuals are grouped according to defects present with findings from two or more categories required for diagnosis. As this classification method is based on phenotype, variable expression or small family size may well have an impact on diagnosis. We report a four-generation family with a hair-nail (1-3) dysplasia with nail morphology that is typical of Clouston syndrome. All affected relatives have thick, discolored, hyperconvex nails with onycholysis, varying degrees of hair involvement, and are hidrotic. They lack hyperkeratosis and multiple caries as originally described in Clouston syndrome. We propose that morphologic abnormalities of the teeth may not occur in the phenotype of Clouston syndrome and that it can be considered a hair-nail (1-3) dysplasia.

To expand the phenotype of toluene embryopathy.Review of case records of 35 deliveries with antenatal exposure to toluene. Six children were examined and their features are compared with previously reported cases.There were three perinatal deaths. Of the survivors, review of available data revealed a high incidence of prematurity (42%), low birth weight (52%), and microcephaly (32%). Birth weight, length, and head circumference and gestational length were significantly less than a control group closely matched for gender, race, and socioeconomic status. Follow-up pediatric evaluation revealed growth retardation (46%5th percentile for weight, 38%5th percentile for height), microcephaly (46%), and developmental delays (38%). Maternal toluene abuse of 4 or more years was positively correlated with weight5th percentile and microcephaly in childhood. The six children examined demonstrated many previously described features of toluene embryopathy including microcephaly, narrow bifrontal diameter, short palpebral fissures, hypoplastic midface, wide nasal bridge, abnormal palmar creases, and blunt fingertips. Only one of the six children examined had antepartum exposure to alcohol as well as toluene.In utero exposure to toluene seems to be associated with teratogenicity in the developing fetus. A preliminary picture of toluene embryopathy is now emerging.

We report on an Amish family with five individuals in two generations with complex congenital heart disease. Autopsy findings in one and clinical examination in the others support the diagnosis of polysplenia “syndrome.” In a mouse model, this spectrum of situs abnormalities and cardiovascular defects shows recessive inheritance with homozygotes having either situs solitus or situs inversus or ambiguous situs. The parents of the four affected sibs are fourth cousins. We think that the father of these four children is an affected but clinically normal homozygote, that his deceased sister was an affected homozygote, and it seems likely that they too had consanguinous parents.

Peliosis hepatis is a rare hepatic disorder mainly diagnosed at surgery or autopsy. Clinical outcome is thus frequently poor. We report a patient in whom the diagnosis was established by percutaneous needly biopsy. Withdrawal of the steroid medication was followed by a prompt clinical improvement. Although histologic proof of regression is not available, this experience suggests a more favorable prognosis than previously thought possible.

A 48-yr-old woman with chronic intestinal ischemia and a long history of oral contraceptive use is reported. She presented with a 6-month history of severe diarrhea, abdominal pain, and weight loss. Abdominal arteriography revealed occlusion of the celiac axis at its origin and 90% stenosis of the superior mesenteric artery. This chronic arterial lesion has not been previously noted in association with the use of oral contraceptive agents in otherwise healthy women. The patient's isolated arterial lesions proved amenable to successful surgical bypass. Postoperatively she became completely asymptomatic and has remained so on long-term follow-up.