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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Administration of nickel chloride to the pregnant mice on the seventh to eleventh day of their gestational period, resulted in significant embryotoxic effects in terms of an increased resorption rate, a decreased fetal weight, delay in skeletal ossification and high incidence of malformation. Among the cases of fetal malformation, the following malformations were observed to occur at a higher rate of incidence: acephalia, exencephaly, cerebral hernia, open eyelid, cleft palate, micromelia, ankylosis of the extremity, club foot and skeletal anomalies. Most skeletal anomalies were in the form of vertebral and/or rib fusions and were found mostly at thoracic and lumbar levels. The concentration of nickel retained in embryonic tissues was 800 times higher in the exposed compared to control groups and indicated that increased tissue levels of nickel chloride had a toxic influence on the developing embryo.
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PMID:Teratogenic effects of nickel chloride on embryonic mice and its transfer to embryonic mice. 47 66

The present report treats a female stillborn human anencephalous fetus with the craniorrhachischisis, cleft palate, left-sided congenital diaphragmatic hernia, hypoplasia of lungs, imperforate vagina and anus, absent left kidney and sternal muscle on the left side. In view of the rarity of the records of autopsied cases of anencephaly, authors made efforts to obtain informations on how all the organs in this fetus and their topographical relation in each other are affected by the anencephaly. The findings are summarized as follows. 1) This case falls under Anencephalus craniorrhachischisis in NANAGAS (1925)'S classification. 2) The greater part of thoracic and lumbar vertebral column except T10, 11, 12 and L1 segments shows several segmental malformations. The lumbar vertebral column is twisted towards right and the left posterior abdominal wall is nearly absent. Due to these changes, only two ribs are present on the left side. 3) In this case, there is a congenital diaphragmatic hernia through persistent left sided pleuroperitoneal canal. The abdominal viscera protruded into the pleural cavity are the caecum, vermiform appendix, colon, spleen and pancreas. 4) On both sides, the ventral rami of the thoracic, lumbar and sacral nerves are normal in number. Their spinal ganglia situated on these nerve roots are, however, fused to form eight ganglionic masses. 5) The five short left thoracic ventral rami arise from a ganglion lying on the posterior thoracic wall. This ganglion gives off the two branches communicating with the right 7th, 8th and 11th thoracic nerves. On the other hand, the right lumbar plexus receives the left 1st, 2nd and 3rd lumbar nerves. In the left pelvic part, there is another ganglion which gives off the two large branches to the right 1st and 2nd sacral nerves. 6) From the findings mentioned above, it is advisable to examine not only the ectodermal structures but also mesodermal ones to promote the studies on a factor in the genesis of anencephaly.
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PMID:Macroscopical observations on a human anencephalous fetus with multiple malformations (author's transl). 63 30

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.
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PMID:Congenital malformations associated with anencephaly and iniencephaly. 78 97

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.
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PMID:Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). 120 27

The effect of paternal smoking on birth defects was examined using data from the Shanghai Birth Defects Monitoring Program in Shanghai Municipality from October 1986 to September 1987. A stratified random sample of 29 hospitals was selected. A total of 75,756 births with weights of 1000 gm or over were recorded. The final sample included 1012 cases and 1012 controls without adjustment for confounding factors. Maternal exposure to radiation, chemicals, and pesticides during pregnancy and the smoking and alcohol consumption habit of the husband were recorded. The relative risk (RR) of birth defects associated with paternal smoking was 1.2. Paternal smoking was associated with a 2.1- fold increase of anencephalus; infants whose fathers smoked were 3.3 times as likely to have had pigmentary anomalies of the skin, and 2.3 times as likely to have a diaphragmatic hernia. The odds ratio (OR) of spina bifida was 1.9 and varus or valgus deformities of feet had an OR of 1.8. The OR of these anomalies was also over 1.5: eye anomalies, microtia or absence of ear, nasal bone absence, cleft palate without cleft lip, brachydactylia or adactylia, undescended testicle, and polycystic kidney. The possible dose-response relationship between paternal smoking and birth defects was assessed in 3 groups: 1-9, 10- 19, and 20 or more cigarettes per day. Similar increased RRs across smoking levels were found for anencephalus, cleft palate, and pigmentary anomalies of the skin. Increasing risk among the heavier smokers was apparent for spina bifida, nasal bone absence, varus or valgus deformities of the feet, and diaphragmatic hernia. Paternal smoking was slightly more related to multiple defects than to single defects. This suggests a modest link between paternal smoking and total birth defects and a stronger effect of paternal smoking and anencephalus and spina bifida risk, consistent with a previous study.
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PMID:A case-control study of paternal smoking and birth defects. 142 80

The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. Fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.
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PMID:Triply discordant triplets: probability, management options, and risks. 148 86

Wolf-Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth retardation (IUGR) diagnosed on routine ultrasound (US). In addition, cleft-lip and palate and diaphragmatic hernia respectively were found in two cases. The quantity of amniotic fluid was normal in all cases. At autopsy, the fetuses showed the typical craniofacial dysmorphy but without microcephaly. Major renal hypoplasia was the only constant visceral anomaly. Midline fusion defects were observed in all the fetuses, ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect, and diaphragmatic hernia. On post-mortem X-rays, a delayed bone age was always observed. All the placentae were hypotrophic, and two exhibited vascular lesions, although there was no maternal hypertension. Chromosomal studies showed that the breakpoints were within the 4p16 band in three cases, the 4p15 band in one case, and the 4p14 band in one case. The deletion was de novo in four cases, and resulted from a paternal translocation in one case. This study emphasizes the importance of karyotyping all fetuses with IUGR, especially when the quantity of amniotic fluid is normal, and suggests the possibility of recognizing on US the particular phenotype of WHS in utero.
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PMID:The Wolf-Hirschhorn syndrome in fetuses. 149 41

We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.
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PMID:Fryns syndrome without diaphragmatic hernia? 178 45

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.
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PMID:Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. 192 Mar 72

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.
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PMID:Terminal deletion 6p23: a case report. 226 May 91


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