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)

Previous reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.
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PMID:Normal intelligence in two children with Carpenter syndrome. 26 37

Clinicogenetic assessment of a family whose six members proved to be carriers of an identical pathological trait allowed the delineation of the clinical picture of the hereditary disease described. Its major components include congenital cranial and facial abnormalities, malformed extremities characteristic of acrocephalosyndactyly, and a progressive pattern of psychic disturbances and higher cortical dysfunctions arising in old age. The first to come are increasing acoustic agnosia and disconnected delusions (stage of psychotic disorders) which are followed by progressive overall mental retardation with concomitant deactualization and disappearance of delusional feelings (stage of dementia). It has been suggested that cases of this kind make up a new (viz., the sixth) type of acrocephalosyndactyly with an autosomal dominant pattern of hereditary transmission. The mutant gene appears to be pleiotropic and characterized by complete penetrance and slightly varying expressivity.
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PMID:[Acrocephaly, cranial asymmetry, brachydactyly, syndactyly, progressive senile dementia--a new type of acrocephalosyndactyly?]. 688 Apr 96

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.
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PMID:The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 745 Jul 76

Craniosynostosis is a little known organic factor in sociopathy. This factor should be among those taken into consideration in selecting patients to undergo craniotomy. Among 22,000 skulls of neuropsychiatric patients, there were 100 with premature coronal synostosis, compared with 57 with dolichocephaly. Thirty-seven of the 100 patients with coronal synostosis exhibited disorders of social adaptation; frontal cortex functions are assumed to be involved. There were 34 cases of mental deficiency, 21 cases of psychosis, 13 of cerebral vascular disease, 10 cases of epilepsy, 4 of acrocephalosyndactyly, 3 of decompensation by slight craniocerebral trauma, and 1 case of ependymoma of the IV ventricle. Dolichocephalic patients exhibited a stronger tendency towards depressive states and cerebral vascular disease. The risks of cosmetic impairment and resulting psychosocial problems are discussed; especially in girls with oxy- and scaphocephaly craniofacial correction, is indicated, as it is also in patients with Saethre-Chotzen syndrome. In cases of premature synostosis of the coronal suture or synostosis of several sutures for carrying out a craniotomy, it is advisable to employ a combination of orbito-frontosphenoidal osteotomy for extension of the anterior cranial fossa. Craniosynostosis is a risk factor which, depending on the individual case and the sex and age of the patient, can impair central nervous functions, social adaption, and the blood supply of the brain.
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PMID:Craniosynostosis as a risk factor. 826 13

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 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