Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;10 translocation with terminal duplication of 10q [dup(10)(q25.1-->qter)] and monosomy of a small terminal segment of chromosome 4q [del(4)(34.3-->qter)]. Detailed clinical examination and review of the literature showed that the phenotype of the patient was mainly determined by the dup(10q). This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. Some of these rearrangements-like the terminal dup(10q) identified in our patient or interstitial del(2q)-are associated with clearly defined phenotypes and can be well distinguished from each other on basis of clinical examination. This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome.
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PMID:Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. 1826 84

Accidental injection of formalin is certainly rare, but it has serious consequences in terms of morbidity and mortality. We report a case of severe ophthalmic damage due to an accidental formalin's injection in the eyelid of a three-year-old child presenting with congenital ptosis's surgical repair of her left eye. This accident has damaged the orbital region and led to upper left eyelid's necrosis, eyeball's deformation and ipsilateral cataract. In terms of our observation, we discussed consequences of this rare type of accident, and its systematic and loco-regional effects. We tried also to explain these manifestations by analyzing the metabolism process of formalin in the human body. Finally, a medico-legal implication of such accident has been illustrated according to the Tunisian law (Penal Code of the Tunisian republic 'PCT').
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PMID:Reckless formalin injection in the eyelid instead of local anesthetic: case report. 2815 59