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)

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

The authors report on a child in which the occurrence of cardiac defect, urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-year-old girl referred for mental retardation. Auricular septal defect was diagnosed at birth. She was surgically treated for bilateral vesico-ureteral reflux at 2 years of age. At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. The Duane anomaly may occur in association with various partly overlapping syndromes that may be part of the same clinical spectrum, as the cervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inherited in an autosomal dominant fashion: the acro-reno-ocular syndrome and the Okihiro syndrome. Their patient seems to have a different condition from all of these previously reported syndromes associated with the Duane anomaly. Their suggest that this condition is best described as a new syndrome.
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PMID:Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition? 771 Feb 57

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.
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PMID:Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. 978 Oct 21

Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements.
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PMID:Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. 1732 6

A 12-year-old boy with a supernumerary chromosome, probably derived from number 22, had typical features of Duane syndrome with limitation of abduction and retraction of the globe upon adduction. Additionally, the patient had antimongoloid slant of the eyes, epicanthal folds, preauricular sinuses, cardiac malformations, skeletal malformations, and mental retardation suggestive of the cat-eye syndrome. The cat-eye syndrome has been often associated with a supernumerary chromosome derived from number 22. Our patient's karyotype was 46,XY/47,XY, + mar, with the supernumerary chromosome probably derived from number 22. These findings supplement previous findings of chromosome 22 abnormality associated with an ocular motility disorder.
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PMID:Duane syndrome associated with features of the cat-eye syndrome and mosaicism for a supernumerary chromosome probably derived from number 22. 2487 32