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)

The case presented here is a three-month-old male infant with the Beckwith-Wiedemann's syndrome. Clinically, the patient was characterized by macroglossia, visceromegaly, umbilical hernia, microcephalus and other multiple malformations such as facial flame nevus or ear lobe grooves. The patient died of bronchopneumonia at the age of three months, and an autopsy was performed. Morphological examination revealed adrenal cytomegaly, hyperplasia and hypertrophy of the pancreatic islets, adrenal rest tissue in the right testis or hypertrophy of muscle fibers of the tongue associated with fibrous degenerative change, in addition to bronchopneumonia of the lung, causing his death. On electron microscopical examination, the cytomegalic cell of the adrenal was characteristic of large pleomorphic nucleus and granular substances with high density in the cytoplasm. In this case, thorough histologic search revealed no evidence of tumorous growth in the organs, though the exomphalos-macroglossia-gigantism syndrome has been of interest in its relationship to the occasional occurrence of Wilms tumor, adrenal carcinoma or other tumors.
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PMID:Beckwith-Wiedemann's syndrome--a report of an autopsied case--. 43 92

Nevus flammeus (teleangiectaticus) is the most common variety of congenital nevus. Among 3961 infants checked at the ages of 3--7 days and again at 6 weeks 42% showed nevi flammei mediales in the nape and/or in the eyelids and glabella. The mothers of the infants presenting with n.fl. tended to be overweight, to have circulatory distrubances and prolonged duration of laor. The infants with n.fl. frequently had concomittant edema, navel hernia and minor degenerative stigmata. However malformations did not occur more commonly. This investigation suggests that exogenous factors such as diseases during pregnancy, intake of drugs and difficulties in delivery do not influence the genesis of n.fl. Only constitutional factors could be correlated with the incidence of n.fl. Since there was a higher frequency in female than in male infants and a lower frequency in premature than in term newborns it may be that hormonal inffluences increase the incidence of n.fl., too. These results were obtained from the prospective study: Schwanger-schaftsverlauf und Kindesentwickling (DFG).
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PMID:[Correlation of obstetrical and clinical data with nevi flammei in the newborn (author's transl)]. 112 20

19750 school children, ages 6 to 15 years, were examined by the authors of this study, 1,220 (6.18%) had congenital abnormalities. In this group, 4.23% were boys and 1.88% were girls. Case histories revealed inbreeding amongst the parents (families) of children with congenital malformation to be 8.9% and 8.2% for the rest of the families in this study. There were 27 different congenital abnormalities identified, with prevalence rates of 0.05/1,000 to 15.85/1,000. The most prevalent abnormalities were umbilical hernia (15.85/1000), inguinal hernia (14.50/1,000), pectus carinatum and excavatum (7.68/1,000), undescended testes (9.00/1,000 boys), congenital nevus (3.54/1,000), retractile testis (4.45/1,000 boys), pilonidal sinus (2.63/1,000), pes planus (2.28/1,000), and hemangioma (1.16/1,000). Of the 19,750 children, 70 had multiple anomalies (3.75/1,000).
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PMID:Prevalence of congenital abnormalities in Turkish school children. 824 91

A girl born with a left chest wall hamartoma, macroglossia, nevus flammeus of the middle forehead, and a small umbilical hernia developed left lower extremity hemihypertrophy by 1 year of age and is assumed to have Wiedemann-Beckwith syndrome. Hamartoma of the bladder and a cardiac fibrous hamartoma have been reported previously in association with Wiedemann-Beckwith syndrome. Infantile hamartomas are exceedingly rare and add to the spectrum of tumor formation in the syndrome.
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PMID:Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors. 1142 37