Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A syndrome of subacute respiratory distress, severe metabolic bone disease affecting the thoracic cage, and mild cholestasis occurred in 4 small preterm infants during the first three months of life and was associated with considerable morbidity. The early radiological features in the chest resembled thos of the Mikity-Wilson syndrome, with which the disorder may be confused. After spontaneous improvement in hepatic function 3 of the infants fully recovered. The fourth died of paralytic ileus. Various nutritional and absorptive abnormalities probably contribute to the pathogenesis of the bone disorder in this syndrome. The best prophylaxis might be to supplement the diet with 25-hydroxyvitamin D rather than native vitamin D.
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PMID:Rachitic respiratory distress in small preterm infants. 86 Aug 72

In six cases of congenital syphilis in newborn at Los Angeles County-USC Medical Center over a seven-month period the clinical findings fell into two categories related to the time of onset of symptoms. Infants ill in the nursery presented evidence of transplacental infection; infants who became ill later showed the "classic" findings of rash, rhinorrhea and pseudoparalysis. No single clinical symptom was present in all cases but all symptomatic infants had radiographic evidence of bone disease. Respiratory distress was present at the onset of symptoms in three of four infants with neonatal disease, and all three had evidence of interstitial pneumonia in chest radiographs. Serologic testing may be difficult to evaluate in the newborn period, but more recent and specific tests are helpful in diagnosis. Penicillin remains the drug of choice. The only death occurred at five hours of life in a premature infant. Growth and development in surviving infants appeared normal.
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PMID:Congenital syphilis in newborn. 469 80

A 4-day-old neonate presented with respiratory distress owing to chest wall deformity associated with metabolic bone disease. He was found to have congenital hyperparathyroidism and his mother was suffering from post-surgical hypoparathyroidism and vitamin D deficiency. The patient was given calcium lactate and maintenance doses of vitamin D. The respiratory distress subsided, the parathyroid hormone level returned to normal and by 4 weeks of age bone mineral content had improved. Congenital hyperparathyroidism should be considered in neonates presenting with respiratory distress and chest deformity.
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PMID:Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress. 1946 Feb 69

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.
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PMID:Congenital rickets presenting as refractory respiratory distress at birth. 2377 52