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)

The first case of Goldenhar's syndrome, oculo-auricular dysplasia, found in Bantu, is described. Besides the usual eye and ear manifestations a facial paresis at both sides was found. There were no signs of vertebral anomalies on X-rays. The use of a hearing aid showed that the apparent mental retardation was of a secondary nature, due to the hearing loss. The mother had not been ill in the first trimester of pregnancy and had not used any medicine.
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PMID:Goldenhar's syndrome, oculo-auricular malformation, in a Bantu girl. 56 29

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

Recently sleep related breathing disorders in children have received considerable attention. Unfortunately, cardiorespiratory polygraphy is expensive and time-consuming, and up until now today only a few pediatric hospitals have complete facilities for all-night cardiorespiratory polygraphy. Nevertheless, the prevalence of sleep related breathing disorders in children is higher than has previously been thought. To show the importance of proper diagnosis of sleep related breathing disorders, we report a case of a 4-year-old girl with severe obstructive sleep apnea caused by Goldenhar-sequence (facio-auriculo-vertebral dysplasia). Despite some treatment efforts to correct the aplastic right mandible, the symptoms of obstructive sleep apnea were not immediately recognized and remained untreated. Untreated obstructive sleep apnea led to growth and mental retardation. After polygraphic confirmation of obstructive sleep apnea and appropriate interdisciplinary treatment, the 4-year-old girl made rapid advances in growth and mental development.
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PMID:Four-year-old girl with Goldenhar-sequence and severe obstructive sleep apnea, symptoms, diagnosis and therapy. 966 50

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.
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PMID:Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. 1282

Goldenhar (GS) syndrome is a well-recognised developmental disorder involving first and second branchial arches and characterized by considerable phenotypic variability. The present study presents clinical data on the morphologic features, hearing, ophthalmologic, orthopaedic, neurological, cardiovascular, genitourinary and gastrointestinal evaluation of 17 Greek patients (one pair of monozygotic twins) aged 20 days to 23 years with the clinical diagnosis of GS and with a normal karyotype. The most consistent findings were auricular defects (94%), followed by facial (76%) and ocular anomalies (65%), 70% unilateral, mainly right-sided. In the majority of our patients (90%) mandibular hypoplasia was ipsilateral to the dysplastic ear or the most severely affected ear in bilateral cases. Hearing loss, mainly conductive, was noted in 76% of our patients. Skeletal defects were evident in 23%, while cardiovascular, genitourinary and gastrointestinal in 18%, 23% and 12% respectively. The most frequent neurological manifestation was facial nerve paralysis (12%), while the incidence of mental retardation was higher (23%) than reported in the literature, presumably attributed to the severe hearing and vision loss. In a pair of monozygotic twins of our study discordance of clinical findings was noted. Precise evaluation of GS patients and multidisciplinary care management is necessary to avoid possible complications of many systems and to offer appropriate genetic counselling to the family.
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PMID:Clinical manifestations in 17 Greek patients with Goldenhar syndrome. 1710 Feb 5

The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation was diagnosed in two siblings of different sexes, with the brother being more severely affected. The mother presented with zygomatic arch hypoplasia of the right side only. We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the MYCN, the CHD7, and the TCOF1 genes did not reveal any abnormalities. Autosomal recessive oto-facial syndrome, hypomandibular faciocranial dysostosis, and Ozkan syndromes were clinically excluded. A microdeletion 22q11.2 was excluded by FISH analysis, a microdeletion 2p23-p24 by microsatellite analyses, a subtelomeric chromosomal aberration by MLPA, and a small genomic deletion/duplication by CGH array. As X-inactivation studies did not show skewed X-inactivation in the mother, we consider X-chromosomal recessive inheritance of this condition less likely. We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
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PMID:Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 1749 18

Genosensor Array 300 (Abbott) is a multiplex platform for array-based comparative genomic hybridization that detects unbalanced genomic aberrations including whole chromosome gains/losses, microdeletions, duplications and unbalanced subtelomeric rearrangements. A series of 30 patients with unexplained mental retardation, dysmorphic features, congenital abnormalities and normal high resolution karyotype and FISH subtelomeric studies were analyzed using Genosensor Array 300 array-CGH. We identified a chromosomal aberration in one patient with an interstitial 1p31.1 deletion. FISH analysis with BACs specific probes of the 1p region confirmed the interstitial 1p22.2-p31.1 deletion. The patient was a 20-year-old man with short stature, facial dysmorphism including asymmetry, scoliosis, severe psychomotor delay and an epibulbar dermoid cyst. The phenotype was compatible with Goldenhar syndrome despite the absence of asymmetric ears. This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array-CGH technology in detecting interstitial deletions.
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PMID:Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. 1862 84