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

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

Magnetic resonance (MR) imaging findings in two cases of Hunter's syndrome [mucopolysaccharidosis (MPS) type II A] are reported. The first case is a 15-year-old boy in whom the diagnosis of Hunter's syndrome was made at 2 years of age on the basis of increased glycosaminoglycans in the urine, developmental delay, characteristic faces, joint contraction, family histories, and radiological characteristics including oar-like deformed ribs and dysplasia of lumbar vertebrae. MR images showed marked enlargement of the lateral ventricles and third ventricle. The cerebral cortical sulci were diffusely dilated. Abnormal intensity lesions in the lateral part of the lentiform nucleus, the subcortex of the insula, the pons, and the right thalamus were seen. Diffuse hyperintensity throughout the periventricular white matter is also seen on T2-weighted images. The second case is a 3-year-old boy, born at immature delivery. At 2 months of age, he was admitted to a pediatric department because of liver dysfunction, inguinal hernias and umbilical hernia. The diagnosis of Hunter's syndrome was made by developmental delay, gargoylism, joint contraction, kyphosis, and biochemical investigation of urine. Urinary glycosaminoglycans significantly increased. Skeletal radiography showed dysplasia of the lumbar vertebrae and acetabulum. T1-weighted MR images demonstrated numerous hypointense spots in the corpus callosum and the cerebral white matter, presumably suggesting large perivascular spaces. Multiple cystic changes appeared to be hyperintense on T2-weighted images. Numerous linear hyperintense lesions were visible in the corona radiata. Patchy areas of hyperintense areas were seen, more prominent in the parietal lobes. Neuropathological examinations in cases of Hunter's syndrome have previously shown marked dilatation of ventricular system, large perivascular spaces secondary to mucopolysaccharide storage, demyelination and gliosis in the white matter and so forth. MR findings correlated well with previously reported neuropathological findings. MR study is not only useful for diagnosing Hunter's syndrome but also helpful to follow the pathological status.
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PMID:[Brain magnetic resonance imaging findings in two cases of Hunter's syndrome]. 956 4

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities including microcephaly, anophthalmos and left fixed talipes. The child has shown marked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocation, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detected in her father. Accurate genetic counselling and the opportunity for early prenatal diagnosis can now be offered to this family.
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PMID:A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. 1041 76

We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, "coarse" facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had mild developmental delay. Twin B had a left congenital diaphragmatic hernia and died neonatally. Absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients whose developmental outcome is currently undetermined.
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PMID:Discordant phenotype in monozygotic twins with Fryns syndrome. 1148 14

Congenital diaphragmatic hernia occurs in approximately 1 in every 2500 live births and is associated with a reported mortality of almost 35% in live-born patients and a higher mortality when in utero deaths are counted. Ventilator-induced lung injury, pulmonary hypoplasia, and other associated anomalies account for the high death rate. Numerous adjunctive measures have been used to treat these patients. Inhaled vasodilators (nitric oxide), intravenous vasodilators, and fetal therapy have no proven benefit. While animal models of congenital diaphragmatic hernia are surfactant deficient, controversy remains over the use of surfactant in infants. There has been no clinical trial showing any clear benefit with the use of exogenous surfactant in these patients. Similarly, prenatal corticosteroids show some improvements in animal models, but again, there is a complete absence of supportive data to show benefit in humans. Mechanical ventilator strategies that limit ventilator-induced lung injury by avoiding hyperventilation and lung over inflation are the strategies currently in use that have been associated with improved survival. Long-term follow-up of these patients is quite important since gastroesophageal reflux, developmental delay, chronic lung disease, and chest wall deformity are all seen with increased frequency in these children.
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PMID:Congenital diaphragmatic hernia. 1213 Sep 16

We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.
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PMID:Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. 1243 2

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.
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PMID:Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. 1538 75

The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down-slanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed.
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PMID:Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 1633 34

We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.
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PMID:Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. 1653 64

We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed a deletion of four additional clones. No other abnormalities were detected by array-CGH. FISH studies using 8 BAC-probes were performed for fine mapping of the deletion and confirmed the array results. FISH analysis showed that the deletion breakpoint lies between clones RP11-84G18 and RP11-83N2 (physical distance between clones 0.36Mb) and extends to the telomere. The size of the deletion was estimated to be about 6.4-6.7Mb. Clinical findings include: developmental delay, severe behavioural disturbances, growth-pubertal retardation, congenital conductive mild hearing loss, growth hormone deficiency, compensate hypothyroidism, dysmorphic facial features, excessive joint hypermobility, brachymetaphalangy, abnormal dermatoglyphics and a history of neonatal laryngomalacia, hypotonia and umbilical hernia. The phenotype of our patient is in keeping with those of the literature, with the exception of cardiovascular, urogenital, neurological anomalies and eczema, which were not observed. The report of the clinical and molecular presentation of similar cases will allow accurate phenotype-genotype correlation and proper genetic counseling of the family.
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PMID:Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion. 1719 33


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