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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and pathological details of a case of reno-facial dysplasia are presented and described. Hyperplasia and lamination of Bowman's membrane, corneal endothelial dystrophy with degenerative changes in the posterior stroma, hypoplasia of the retinal ganglion cell and nerve fibre layers, and severe changes in the retinal and iris blood vessels are believed to be pathognomonic ocular features of this syndrome, in addition to cataract and signs of immaturity. These findings are compared with the few descriptions of the syndrome previously published. The corneal damage is postulated to result indirectly from oligohydramnios which causes chronic compression of the globes and thus endothelial damage due to contact with the spherical cataracts. The pathological changes in the retinal and iris vessels are either genetically determined or the result of chronic hypoxia.
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PMID:[Ocular findings in reno-facial dysplasia (Potter-syndrome) (author's transl)]. 10 56

Neonatal diabetes mellitus is defined as hyperglycemia detected in the first month of life of more than 2 weeks' duration, requiring insulin treatment. It is extremely uncommon (1/500,000 neonates) and is permanent in only 30% of cases. Several hypotheses concerning its etiology have been postulated, such as pancreatic immaturity, paternal uniparental isidisomy of chromosome 6, and the existence of a gene located in the 6 q 22-23 chromosome region subjected to imprinting and exclusively of paternal expression. The management of these patients is usually difficult. These neonates are underweight for their gestational age, and neither anti-insulin antibodies nor anti-islets are detected. We studied a neonate hospitalized because of low weight for his gestational age with dimorphic features and hyperglycemia since the 17 th day of life. Clinical and anatomical follow-up has been periodically performed to the present date. The child presents permanent neonatal diabetes with negative antibodies. Although various insulin patterns have been used since the onset of the syndrome, management remains difficult. The child presents hypothyroidism, bilateral neurosensory deafness, bilateral congenital cataract, myopia, dimorphic features, congenital stridor and slow weight-stature curve. The results of muscle biopsy and metabolic studies were normal. Wolfram's syndrome and mitochondrial diabetes were ruled out. This is an exceptional case of permanent neonatal diabetes associated with other malformations corresponding to no known syndromic patterns.
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PMID:[Permanent neonatal diabetes associated with other anomalies]. 1133 81