Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two unrelated patients were found to be mosaic for an extra chromosome 9 (46,XX/47,XX,+9). The first patient showed a prominent nose, deep set eyes, carp shaped mouth and complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7 1/2 year old female who had persistent alacrimia and mental retardation.
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PMID:Mosaic trisomy 9: two additional cases. 90 59

Over three generations, several members of a family suffered from cardiomyopathy exhibiting, primarily, rhythm and conduction disturbances and, eventually, congestive heart failure. Certain serum enzymes (SGOT, SGPT, LDH) were elevated. The clinical examination indicated a progressive deterioration with increasing age of the patients, a more serious course in the male members of the family, and the frequent association of mental retardation.
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PMID:Familial cardiomyopathy. 97 27

Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.
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PMID:Coarctation of the abdominal aorta. 852 35

Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non-adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.
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PMID:Cardiac involvement in Coffin-Lowry syndrome. 1034 51

In five neonates (4 girls and 1 boy) with aneurysm of the V. magna cerebri, clinical signs of congestive heart failure were encountered. In three of the neonates the symptoms were detected postnatally and in two prenatally. In one of the prenatally detected cases the aneurysm was treated by embolisation during the first week of life. Upon follow-up at six years of age, this patient's situation was stable but hydrocephalus had led to poor visuomotor development, mild motor retardation and mental retardation. In the other infants, medicinal treatment of the congestive heart failure was discontinued in view of ischaemic brain damage, and these patients subsequently died. Congestive heart failure often develops in neonates with an aneurysm of the V. magna cerebri due to low cerebrovascular resistance. A continuous murmur over the skull is pathognomonic for this condition.
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PMID:[Aneurysm of the V. magna cerebri (vein of Galen), a cause of congestive heart failure in five neonates]. 1153 79

Coffin-Lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay/mental retardation, and characteristic facial and skeletal findings in affected males. The phenotype in affected females is far more variable and can include developmental differences, obesity, and characteristic facial and skeletal differences. Cardiac anomalies are reported in less than 20% of affected males, with cardiomyopathy being one of the rare but reported complications of this disorder. However, cardiomyopathy is not well characterized in CLS. Here, we report on a 14-year-old boy with physical and developmental findings consistent with CLS who presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; an endomyocardial biopsy demonstrated non-specific hypertrophic myocyte alterations consistent with cardiomyopathy. This is the first description of the histology and electron microscopy of cardiomyopathy in CLS.
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PMID:Cardiomyopathy in Coffin-Lowry syndrome. 1521 12

Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have been mapped within 10.0 Mb from the telomere in most documented cases. We report on a girl with a 10.5-11.1 Mb terminal deletion of 1p36 shown by fluorescence in situ hybridization (FISH). She had three distinct structural abnormalities: bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction. She died in early infancy with intractable epilepsy, progressive congestive heart failure and pulmonary hypertension. To date, this is the first case with monosomy 1p36, complicated by this combination of manifestations; she is also the first who had possibly a simple terminal deletion of 1p36 and died in early infancy. An atypically large deletion in this patient might be the basis for the development of these features and the severe clinical course.
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PMID:Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. 1892 81