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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of this study was to evaluate the spectrum of prenatal sonographic and chromosomal findings, associated anomalies and perinatal and neonatal outcomes in cases with Pierre-Robin sequence. All cases (20) with Pierre Robin sequence, who were born at China Medical College Hospital between 1990 and 1997, were included and analysed in this series. 12 pregnancies (60 per cent) were complicated by polyhydramnios and 9 (45 per cent) were combined with cleft palate. Four cases (20 per cent) with cardiac anomalies were also observed. Two fetuses (10 per cent) had abnormal karyotyping (one trisomy 21, one trisomy 18). All fetuses were delivered at or near term. Male deviation was observed in cases with isolated Pierre-Robin sequence or combined mild anomalies (male female ratio: 13:3). Two neonatal mortalities and three with mental retardation were observed. This investigation provides a basis for counselling patients with fetal micrognathia or neonatal Pierre-Robin sequence. The main prenatal sonographic findings of Pierre-Robin sequence are micrognathia, polyhydramnios and cleft palate. In cases of polyhydramnios, sonographic examination of the facial profile and palate are recommended. After the finding of polyhydramnios, micrognathia, and even cleft palate, clinicians should be aware of the possibility of neonatal Pierre-Robin sequence. Cardiac evaluation and karyotyping is also recommended.
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PMID:The prenatal diagnosis of Pierre-Robin sequence. 1041 75

In this, the 11th Annual Research Review, I have been pleased to work with an outstanding group of contributors. As in past issues of the Annual Research Review the aim is to provide our readers with reviews that update both current knowledge and research findings. Authors are asked to be selective, rather than comprehensive, in their coverage as they identify the issues that they feel are particularly important for future research. I am grateful not only to the authors but to the numerous referees who provided critiques of each paper. In the first paper in this issue David Skuse provides an update on the relevance of behavioural neuroscience to child psychopathology. This paper provides a thoughtful review of the findings of the past decade and outlines possible directions for future research developments; it appears that we are poised for a major explosion of knowledge in this area. In the second paper Robin Chapman provides a very useful review of recent research on language development. This paper provides an update of Dorothy Bishop's earlier review of the topic and illustrates the considerable progress made since the time of that review. In the third paper Eilish Gilvarry summarises recent research on substance abuse in young people. This review covers recent changes in trends and patterns of substance abuse, aspects of risk and comorbidity, and treatment. Brown and colleagues then review recent work on children and adolescents with HIV and AIDS; this global health problem presents unique issues relative both to research and intervention. Danya Glaser then provides an overview of recent work on child abuse and neglect and the brain; the attempt to bring the various perspectives of neuroscience together on this topic is particularly timely and appropriate. Finally, Sparrow and Davis provide an overview of recent advances in the assessment of intelligence. This paper provides a helpful summary of current perspectives on the assessment of intelligence; the review of instruments will be of particular interest to our readers. For the 12th edition of the Annual Research Review we anticipate coverage of the following topics: intersubjectivity, reading disability, longitudinal approaches to developmental data, mental retardation, conduct disorder, and psychopharmacology.
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PMID:Editorial. 1126 Aug 27

We report on two sibs, brother and sister, affected with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome, characterized by mild to moderate psychomotor delay, Robin sequence, peculiar facial appearance, and brachydactyly. To our knowledge, this combination of anomalies has not been reported previously. The occurrence of a similar pattern of anomalies in brother and sister suggests autosomal recessive inheritance; however, dominant transmission with reduced penetrance cannot be ruled out in our patients, since minor clinical signs, such as brachydactyly, are also present in the father.
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PMID:New syndrome of mental retardation, Robin sequence, and brachydactyly. 1133 48

Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X-linked or sex-influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation.
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PMID:Further delineation of the Toriello-Carey syndrome: a report of two siblings. 1249 42

Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition.
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PMID:Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 1505 87

A girl (15 months-old) with Pierre-Robin Syndrome was scheduled for cleft palate plasty. She had a past history of difficulty feeding, mild airway obstruction during sleeping and mental retardation. After induction of anesthesia with an inhalational anesthetic technique, conventional tracheal intubation was impossible. We introduced a laryngeal mask airway (LMA) and successfully intubated through the LMA. After extubation of the tracheal tube, she developed upper airway obstruction with arterial desaturation. We ventilated her lungs in the lateral position with an inhalation of epinephrine and injection of methylprednisolone. Airway obstruction then improved gradually. In this case, LMA was a valuable device as a guide for the tracheal intubation. Because airway obstruction after extubation is a common complication in a patient with Pierre-Robin syndrome, we need to observe the patient closely.
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PMID:[Anesthetic management for cleft palate plasty in a patient with Pierre-Robin syndrome]. 1529 55

We report on the similar phenotypes and clinical course of two sisters. Both patients had an enlarged cisterna magna suggestive of cerebellar hypoplasia, agenesis/hypoplasia of the corpus callosum, Pierre Robin sequence requiring tracheostomy, camptodactyly, microphthalmia, colobomas, seizures, a distinctive facial appearance, global developmental delay, and mental retardation. We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance.
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PMID:A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. 1950 8

Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks). Both autosomal recessive and X-linked inheritance have been proposed, but chromosomal abnormalities involving disparate loci have also been detected in a small number of cases. We report a patient with classical features of TCS and an apparently balanced de novo translocation between chromosomes 2 and 14 [46,XY,t(2;14)(q33;q22)]. Molecular characterization revealed direct interruption of the special AT-rich sequence-binding protein-2 (SATB2) gene at the 2q33.1 translocation breakpoint, while the 14q22.3 breakpoint was not intragenic. SATB2 mutation or deletion has been associated with both isolated and syndromic facial clefting; however, an association with TCS has not been reported. SATB2 functions broadly as a transcription regulator, and its expression patterns suggest an important role in craniofacial and central nervous system development, making it a plausible candidate gene for TCS.
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PMID:Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 1917 Jul 18


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