Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported of a baby with Pierre Robin syndrome born at term with adequate lung maturity. The evaluation of fetal lung maturity before birth by means of the lecithin/sphingomyelin ratio and foam test in the amniotic fluid revealed immaturity of the lungs. Examination of the tracheal aspirate following delivery, however, showed adequate lung maturity in the neonate.
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PMID:Failure of determination of fetal lung maturation due to false-negative lecithin/sphingomyelin ratio in a case of pierre robin syndrome. 89 70

The classical description of the Pierre Robin syndrome includes micrognathia, glossoptosis, airway obstruction, and usual presence of a cleft palate. The Pierre Robin syndrome is currently defined as the combination of retrognathia, cleft palate, and respiratory distress. This last is mixed, with a peripheral component due to glossoptosis and a central component due to brain stem immaturity. The main ocular manifestations found in the Pierre Robin syndrome are congenital glaucoma and severe congenital mypopia responsible for retinal detachment. Microphthalmia is infrequent. We report the case of a neonate with severe Pierre Robin syndrome and major microphthalmia documented by CT scan.
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PMID:[Ophthalmologic manifestations of the Pierre Robin syndrome. Report of a case of microphthalmia]. 231 60

The Pierre Robin Syndrome is characterized by three defects (8,9): micrognathia, cleft palate and glossoptosis responsible for respiratory failure. The new definition of this syndrome associates retrognathia, cleft palate and respiratory distress. This respiratory distress is mixed: obstructive due to glossoptosis, and central, secondary to brainstem immaturity (1,2). The main ocular manifestations associated with the syndrome are congenital glaucoma, high congenital myopia and retinal detachment. Microphtalmia has already been reported, but is infrequent. We present a clinical case of a major microphthalmia in a Pierre Robin Syndrome, confirmed by CT scan exploration.
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PMID:[Microphthalmos in Pierre Robin syndrome. Clinical and x-ray computed tomographic study]. 269 74

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects. We report a boy who has some additional findings, including a severe respiratory failure and intestinal dysmotility. The boy died of these two disorders at age 13 months. Histological examination revealed pulmonary immaturity and a defect of smooth muscle cells in the longitudinal muscle coat of the intestinal musculature, both of which might explain some aspects of the pathophysiology of the patient.
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PMID:Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus. 1288 35