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)

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.
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PMID:Cerebral malformations in Carpenter syndrome. 835 58

Carpenter's syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome characterized by peculiar facies, synbrachydactyly on fingers and preaxial polysyndactyly on feet. To our knowledge there are about 40 reported cases of Carpenter's syndrome in the literature. Congenital heart disease is an uncommon entity in Carpenter's syndrome. In the case we present, transposition of great arteries, subpulmonic ventricular septal defect (VSD) and secundum atrial septal defect (ASD) were diagnosed with echocardiographic examination. Therefore, a cardiologic examination should be done in every newly diagnosed case of Carpenter's syndrome for possible heart defect. Early fatality is seen in Carpenter's syndrome cases associated with congenital heart disease. This is particularly important from the genetic counselling point of view.
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PMID:A case of a four-day-old male with Carpenter's syndrome with transposition of great arteries. 976 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