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)

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.
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PMID:Duplication 6q syndrome. 47 32

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.
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PMID:[Carpenter's syndrome]. 60 89

Fourteen cases of single and polimalformative craniosynostosis are presented. A Crouzon's syndrome, and Apert's syndrome and a Carpenter's syndrome are included. On the cranial deformities, 7 cases of scaphocephaly, 4 cases of oxycephaly and 3 cases of acrocephaly were diagnosed. The eye abnormalities, the mental retardation and the intracranial hyperpressure symptomatology were analyzed. A lineal descompresive craniectomy was performed in 10 cases. The applied surgical criterium was the appearing of intracranial hyperpressure. The postoperative results upon the clinical symptomatology and the cranial deformity are commented, showing a real improve of the hyperpressure symptoms in all the cases, a correction of the scaphocephalic defect and a lack of effect on those clinical manifestations resulting from the cerebral damming. Finally, the timing of operation is discussed.
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PMID:[Craniosynostosis: a review of 14 cases (author's transl)]. 93 Nov 97

In case of an indication for an operation on craniosynostosis not only an atrophy of the optical nerve, mental retardation and epileptic fits should be taken into consideration, but also the danger of faulty psychic developments, criminality of male patients, increased occurrence of psychoses and early cerebral blood flow disturbances as well as, especially in girls with scapho- or oxycephaly, cosmetic impairments with resulting psychosocial disturbances. Convulsions in craniosynostosis are not always an expression of a generally increased intracranial pressure, sometimes genetic couplings should be taken into consideration in case of an indication for craniotomy. Disturbances of social adaptation are related to a psychic fronto-cerebral syndrome due to frontal dysplasia of the base of the skull. For carrying out a craniotomy it is advisable to employ a combination of orbito-fronto-sphenoidal osteotomy for an extension of the anterior cranial fossa.
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PMID:[Neuropsychiatric aspects of surgical indications of craniosynostosis and -stenosis]. 324 35

In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.
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PMID:Herrmann-Opitz syndrome: report of an affected fetus. 330 Mar 35

Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy- or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423-434, 1980].
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PMID:Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. 332 2

Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of Apert syndrome. We report a case of Apert syndrome presenting as fetal hydrocephaly at 28 weeks gestational age, and we review the literature. We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement.
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PMID:Apert syndrome and fetal hydrocephaly. 351 31

Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten patients with the syndrome. Complete or partial agenesis of the corpus callosum was found in six patients, septal defects in three, and arhinencephaly and ammonic hypoplasia in one. Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in Apert syndrome, but also in other acallosal patients.
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PMID:Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). 361 17

Twenty-three cases of craniosynostosis were studied with regard to age at operation, symptoms, operative methods, and long-term results. Long-term results of 20 cases that were followed up for more than 1 year after surgery showed that mental retardation remained in 8 cases; a slight improvement in mental function was observed in only 2 cases. Of the 8 patients with mental retardation, 7 were operated on more than 6 months after birth, 7 showed striking digital impression on skull X-ray films and 5 were suffering from oxycephaly. Of the 8 patients with mental retardation, 5 had suffered from perinatal asphyxia or had seizures during delivery and subsequent past history. From these observations, factors affecting prognosis are: (1) age at operation; (2) the degree and duration of increased intracranial pressure; (3) the extent and degree of suture closures; (4) perinatal asphyxia and seizure disorders.
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PMID:Functional prognosis of surgical treatment of craniosynostosis. 398 42

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.
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PMID:Carpenter syndrome: report of two siblings. 968 91


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