Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although it is currently thought that surgery is indicated mainly for cosmetic reasons in isolated craniosynostoses, the functional aspects of the treatment must not be underestimated. Prospective studies on intracranial pressure and mental evolution of these children have shown that there were functional consequences in a significant proportion of cases even of single suture fusion. The frequency of increased intracranial hypertension and the risk of mental impairment depend on the age of the child and the type of craniosynostosis. In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and Apert syndrome carries the higher risk of mental retardation. The study of a personal series of 2,137 craniosynostoses shows that the functional and the cosmetic results are better after early surgery, and that the operative risks are not higher in infants than in older children.
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PMID:Management of craniosynostoses. 1115 14

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.
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PMID:The carpenter syndrome phenotype. 1512 47

Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia. We present a case of unexpected death of a 7-year-old boy with Carpenter Syndrome complicated by twin and premature birth as well as repaired congenital heart disease.
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PMID:Sudden death in a child with Carpenter Syndrome. Case report and literature review. 1992 77

Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle. To the best of our knowledge, this is the first report in the literature of double outlet right ventricle disease in combination with Carpenter syndrome.
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PMID:[Co-occurrence of Carpenter syndrome and double outlet right ventricle]. 2869


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