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

A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
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PMID:Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field. 175 10

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.
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PMID:Congenital hydrocephalus--analysis of 49 cases. 184 37

Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously.
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PMID:Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant. 207 66

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.
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PMID:The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. 323 72

We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity.
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PMID:Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. 685 98

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised.
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PMID:Fryns syndrome survivors and neurologic outcome. 859 57

Ultrafast magnetic resonance imaging (MRI) sequences have changed the use of MRI to evaluate fetal abnormalities. Currently, the best application is the evaluation of suspected brain abnormalities found on ultrasound. MRI differentiates the various types of fetal ventriculomegaly. Superior posterior fossa visualization allows differentiation of Dandy-Walker malformation from a large cisterna magna. Anomalies of the corpus callosum can be seen. MRI also is valuable in the evaluation of fetal giant neck masses for planning delivery of the baby and surgery for life-threatening airway obstruction. In the chest, MRI differentiates masses such as diaphragmatic hernia, cystic adenomatoid malformation, and sequestration, and it aids in planning fetal surgery because MRI directly visualizes the position of the lung, liver, and bowel.
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PMID:Fetal magnetic resonance imaging. 1129 7

This paper reports 15 examinations by magnetic resonance imaging (MRI) performed in pregnant women whose fetuses had cerebral malformations identified by sonography. In all the cases the fetuses were immobilized by ultrasound-guided intravenous or intramuscular curarization. The diagnoses by MRI and ultrasound differed only in one case where an occipital meningocele had first been suggested. No cerebral abnormalities were demonstrated in this case by the MRI study, and this was confirmed at birth. In the remaining 14 cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. In four of these cases, MRI added some additional information to the ultrasound diagnosis of ventriculomegaly by detecting agenesis of the corpus callosum in two fetuses, one Chiari malformation and one triventricular hydrocephalus. Another two ultrasound diagnoses of microcephaly actually proved to be semilobar holoprosencephaly with MRI. In the following cases, the MRI diagnoses concurred with those of ultrasound, and was therefore used unnecessarily despite providing further anatomical details of the lesions: two cases of agenesis of the corpus callosum, one case of anencephaly, a cystic hygroma of the neck, an alobar holoprosencephaly, a Dandy-Walker malformation and a mild isolated hydrocephalus associated with diaphragmatic hernia. In one case of iniencephaly, sonography offered closer approximation to the correct diagnosis. The results obtained unequivocally confirm the high sensitivity of ultrasound examinations in the prenatal screening of cerebral malformations and show that MRI proves to be complementary in uncertain cases or when more accurate anatomical detail is required.
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PMID:Magnetic resonance imaging in pregnancy: study of fetal cerebral malformations. 1279 20

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.
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PMID:Trisomy 18 syndrome with incomplete Cantrell syndrome. 1894 4