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PubMed1977

Vater syndrome: hypothesis and report of two further cases.

Two cases are reported of the association of a group of abnormalities defined as the Vater syndrome, together with a hypothesis, based on the presence of normal cell death during embryogenesis, on how they occur together so frequently. Although the mechanism of normal cell death is unknown, adjacent cells are probably affected sublethally and subsequently recover. A teratogenic situation introduced simultaneously with the occurrence of normal cell death may further diminish the viability of those adjacent cells, causing increase in the necrotic zone and loss of both normal tissue and growth potential.

Abnormalities, Multiple↗
PubMed1979

Prune perineum.

An infant, born to unrelated parents, who had a rugated perineal mass which measured 17 cm in diameter is reported. No external genitalia or anal orifice was identified although the infant voided from a 5 mm crevice on the caudal surface of the mass. The patient died at four weeks of age. The perineal mass was made up of two separate sacs. The anterior sac resembled a urinary bladder in which two ureteral and a single vaginal orifice were identified. The posterior sac was continuous with the peritoneal cavity and contained bowel, left ovary, uterus and right kidney. The left kidney was small, polycystic and the right gonad a streak.

Abnormalities, Multiple↗
PubMed2002

Descriptive epidemiology of anal atresia in Hawaii, 1986-1999.

BACKGROUND: Anal atresia is one of the more common birth defects affecting the gastrointestinal tract. This study examined the relationship between anal atresia and selected demographic and clinical factors in Hawaii. METHODS: Data were obtained from a population-based birth defects registry and included all cases of anal atresia identified in Hawaii among 1986-1999 deliveries. RESULTS: There were 124 cases of anal atresia, resulting in a rate of 4.38 per 10,000 live births and fetal deaths (95% confidence interval (CI) 3.65-5.23). Cases consisted of 115 (92.7%) live births, 6 (4.8%) fetal deaths, and 3 (2.4%) elective terminations. Chromosomal abnormalities were reported for 10 (8.1%) of the cases, 7 of which were trisomy 21. Family history of anal atresia was reported for 3 (2.4%) of the cases. No secular trend in anal atresia rates was identified (p=0.617). Risk of anal atresia was highest for the 25-29-year maternal age group and lower among younger and older maternal age groups. Risk for anal atresia was lower for females (relative risk (RR) 0.69 95% CI 0.51-0.91) and higher for live births with a birth weight less than 3,000 grams (RR 2.75, 95% CI 2.08-3.56) or less than 38 weeks' gestation (RR 3.90, 95% CI 2.88-5.15) and for multiple births (RR 3.34, 95% CI 1.44-6.57). Anal atresia rates did not vary significantly by maternal race/ethnicity, residence at delivery, gravidity, or prenatal care. CONCLUSIONS: Anal atresia risk was associated with maternal age, infant/fetus sex, birth weight, gestational age, and plurality but not maternal race/ethnicity, residence at delivery, gravidity, or prenatal care. Except for maternal age, these findings are consistent with the literature.

Anus, Imperforate↗
PubMed2000

The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.

Cat eye syndrome (CES) is a developmental disorder with multiple organ involvement, associated with the duplication of a 2-Mb region of 22q11.2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that maps to this critical region. The protein encoded by CECR1 is similar to previously identified novel growth factors: IDGF from Sarcophaga peregrina (flesh fly) and MDGF from Aplysia californica (sea hare). The CECR1 gene is alternatively spliced and expressed in numerous tissues, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In situ hybridization of a human embryo shows specific expression in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects.

Abnormalities, Multiple↗
PubMed1984

Familial congenital esophageal atresia. Personal case report and review of the literature.

Esophageal atresia with or without tracheoesophageal fistula (EA +/- TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies. Seventy-six familial cases are recorded in the literature. Two personal cases are additionally reported. An overview of the 33 pedigrees with familial occurrence of EA is presented. All available data of relevance for genetic analysis are compiled in eight tables. Attention is given to possible heterogeneity between sporadic and familial and between isolated and associated EA. Guidelines for genetic counseling are presented. With exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme.

Abnormalities, Multiple↗
PubMed1975

Acute retrolental fibroplasia.

A pathologic analysis of 19 cases of acute retrolental fibroplasia in autopsy eyes from paranatal infants is presented. The clinical profile of these subjects showed no clear-cut maternal factors. Infant factors included systemic congenital anomalies (14 cases); ocular congenital anomalies (1); birth weight--less than 1500 grams (12), more than 2000 grams (4); neonatal complications--"respiratory distress" (8), "apneic spells" (7), Erythroblastosis fetalis (3); oxygen therapy of varying amounts (14); periodic elevations of arterial oxygen (7); and varying survival times (intrauterine death, one case; less then 48 extrauterine hours, 9 cases). Considering all cases, the lesions showed a progressive pattern--beginning with proliferation of primitive vascular mesenchyme in vanguard of advancing vasculature (four cases), formation of intraretinal band of endothelial cells in rear guard (10 cases), and finally, extraretinal neovascularization from rear guard zone (five cases).

Acute Disease↗