Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. In addition to the skeletal abnormalities, hydrocephalus, hydronephrosis, and congenital heart disease have been reported. We describe a preterm neonate who presented with respiratory failure and clinical features of CD. Our case had only 10 pairs of ribs, and to the best of our knowledge this is the first case report of CD with 10 pairs of ribs.
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PMID:Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report. 3066 10

Brain abscesses can cause significant morbidity in patients with cyanogen heart disease. In countries with limited resources treatment, it is difficult and prognosis is guarded. Here we report a case of brain abscesses revealing a rare form of cyanogen heart disease, the trilogy of Fallot, in Parakou in the north of Benin. The study involved a 9-year old boy, referred to a primary hospital for left hemiparesis. Interview and physical examination revealed symptoms evolving for two months including intense headaches, fever, vomiting and functional impairment of the left hemi-corps, altered general state, generalized cyanosis, left hemiparesis, pulmonary systolic murmur. Brain CT scan showed abscesses in the right parietal region and in the left temporal region as well as hydrocephalus. Doppler echocardiography showed stiff pulmonary stenosis, atrial septal defects and right ventricular hypertrophy. Antibiotic therapy including ceftriaxone, gentamicin and metronidazole was started in emergency. Indication for surgical intervention included trepano-puncture but this could not be performed due to rapid unfavorable outcome. Brain abscesses are a common complication of cyanogen heart disease. Outcome is fatal in the absence of adequate management, hence the role of diagnosis and early treatment of these heart diseases.
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PMID:[Brain abscess revealing trilogy of Fallot in a child: about a case at the University Teaching Hospital of Parakou, Benin]. 3218 Aug 63


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