Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a newborn boy with manifestations of Fryns syndrome who also had a mosaic tandem duplication of chromosome 1q24-31.2. The child had a diaphragmatic hernia, cleft palate, hypoplastic and absent digits, micrognathia, long philtrum, thin upper lip, and anteverted nose. The baby died at age 5 hours. An autopsy demonstrated absent right middle lobe of the lung, bilateral renal cysts, hypoplastic renal arteries, urethral stricture, hydronephrosis, and aortic coarctation. The brain was abnormal with absent olfactory tracts and cerebral and cerebellar heterotopias. This is the first report of a chromosome anomaly in a child with Fryns phenotype. It suggests that the gene for Fryns syndrome may be located in the region 1q24-31.2.
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PMID:Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. 259 30

Liquorrhea nasalis (LN) is considered by ENT specialists as vasomotor--allergic rhinitis. It is divided into craniosinusonasal and cranionasal. The latter form is more dangerous as to intracranial complications. Otorhinolaryngological and otoneurological examinations of LN patients are essential in the disease diagnosis, evaluation of surgical results (by nasal endoscopy), detection of intranasal medullary hernia, liquor cysts and tumors as well as residual otoneurological symptoms consequent to meningitis, brain trauma, etc. In choice of surgical treatment the attention of the physician should be directed to concomitant intranasal hernias and liquor cysts, tumors, purulent sinusitis. Out of 70 LN cases residual symptoms of olfactory disorders were recorded in 35%, neurosensory hypoacusis in 30% of the cases. The best position of the patient and relevant facilities for identification of even minimal LN are described.
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PMID:[Rhinologic and otoneurologic tests in the diagnosis of nasal liquorrhea and their significance in the choice of surgical treatment]. 778 48

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

A new observation of 13q deletion syndrome: severe undescribed features: 13q deletion syndrome is characterized by a wide phenotypic spectrum resulting from a partial deletion-of the long arm of chromosome 13. It consists predominantly of mental and motor retardation, craniofacial dysmorphia, growth retardation, and several congenital malformations. We present a new case with 13q deletion syndrome phenotypically characterized by severe major malformations, some of them still undescribed, consisting of left diaphragmatic hernia, right pulmonary sequestration, hypoplastic left heart syndrome, pancreatic agenesis, polysplenia, and catastrophic central nervous system malformations: semilobar holoprosencephaly, occipital myelomeningocele, partial agenesis of the corpus callosum and agenesis of olfactory bulbs. Fluorescence in situ hybridization technique using the probe LSI D13S319 (13q1l4) SO/ LSI 13q34 SG determined partial monosomy of chromosome 13 in 39/100 cells (mosaicism).
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PMID:A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. 2634 91