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

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.
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PMID:The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. 845 27

Carbohydrate-deficient glycoprotein syndrome is characterized by mental retardation, ataxia, hepatopathy during infancy, cerebellar hypoplasia, peripheral neuropathy, internal strabismus, growth retardation and stroke-like episodes. Since the description of female siblings with unique clinical and biochemical features by Jaeken (1980) and the discovery of unique isoforms of serum transferrin in the patients by Jaeken (1984), more than 120 patients have been diagnosed. The biochemical marker is asialo- and disialo-transferrin. We have found the first Japanese patients and, through analysing serum glycoproteins from these patients, we was noted that multiple serum glycoproteins contain abnormal fractions, on isoelectric focusing. By analysing the sugar chain of transferrin, we have found that the abnormality is caused by a defect in the transfer of asparagine-N-linked oligosaccharide. Recently, two clinical and biochemical variants have been reported. One, characterized by severe mental retardation, no cerebellar hypoplasia, no peripheral neuropathy, diasirotransferrin dominancy, has proven to have a deficiency of N-acetylglucosaminyltransferase II, by Jaeken (1993).
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PMID:[Carbohydrate-deficient glycoprotein syndrome]. 857 56

Cockayne's syndrome is a rare, autosomal recessive condition which usually presents in early childhood, and is characterised by dwarfism, premature ageing, mental retardation and a typical facial appearance and body habitus. Retinal dystrophy, enophthalmos, strabismus, cataract, nystagmus and corneal opacities are associated ocular features. At a genetic level, a defect occurs in the pathway for the repair of transcriptionally active DNA, and the most common form of Cockayne's is associated with mutations in the human repair gene ERCC6. These patients pose a difficult management problem. A significant proportion will require cataract extraction at an early age, which may present technical difficulties due to enophthalmos, which is a constant finding, poor pupillary dilation and growth retardation. Also, the fitting and assessment of aphakic contact lenses during the post-operative period requires great skill. General anaesthesia in these patients may be hazardous. In particular, difficulty with endotracheal intubation should be anticipated. Two patients with Cockayne's syndrome requiring bilateral cataract extraction in early infancy are presented. The problems associated with surgery, anaesthesia and subsequent follow-up in these mentally retarded infants are discussed.
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PMID:Ophthalmic management of Cockayne's syndrome. 876 5

Trichothiodystrophy (TTD) is a rare autosomal recessively inherited disorder which is characterized by sparse and brittle hair with low cystine content. It is often associated with physical and mental retardation. We report 2 cases of TTD in 2 sibs who were born to related parents. The children showed clinical features typical of TTD and in addition other symptoms such as epilepsy, ataxia, spasticity, strabismus, atopic dermatitis, dysarthria and hyperextensible fingerjoints. The sulfur content of hair was reduced to about 50% of normal values and scanning electron microscopy of hair showed trichorrhexis nodosa, trichoschisis, missing cuticle scales with weathering of hair shafts. Under polarizing microscopy an alternating dark and bright banding was found. The present cases show that the correct diagnosis of TTD in practice can be impeded for many years because of the heterogeneous clinical appearance and that the determination of the sulfur content in hair is a simple but indispensable method.
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PMID:Diagnosis of trichothiodystrophy in 2 siblings. 903 99

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

A small ring-shaped supernumerary marker chromosome (SMC) was detected in 50% of metaphase cells in an 18-month-old boy with mental retardation and multiple congenital anomalies. Conventional cytogenetic methods had failed to identify the origin of the marker. When the patient was age 11.5 years, we defined the origin of the SMC by fluorescence in situ hybridization using a battery of centromere-specific DNA probes. The marker was positive with the probe for locus D2Z. More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The marker was identified as r(2)(p11.2-->q14.1). The propositus had dolichocephaly, coarse hair, low-set ears, exophthalmos, epicanthal folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, talipes varus on the right, inguinal hernia, hypogenitalism, muscular hypotonia, and mental retardation. This is the first case of SMC derived from chromosome 2 that was characterized by forward and reverse chromosome painting.
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PMID:Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting. 1056 73

We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.
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PMID:New clinical findings in oculo-ectodermal syndrome. 1064 96

The immature visual system in infants born preterm is vulnerable to adverse events during the perinatal period. Periventricular leukomalacia affecting the optic radiation has now become the principal cause of visual impairment and dysfunction in children born prematurely. Visual dysfunction is characterized by delayed visual maturation, subnormal visual acuity, crowding, visual field defects, and visual perceptual-cognitive problems. Magnetic resonance imaging is the method of choice for diagnosing this brain lesion, which is associated with optic disk abnormalities, strabismus, nystagmus, and deficient visually guided eye movements. Children with periventricular leukomalacia may present to the ophthalmologist within a clinical spectrum from severe cerebral visual impairment in combination with cerebral palsy and mental retardation to only early-onset esotropia, normal intellectual level, and no cerebral palsy. Optimal educational and habilitational strategies need to be developed to meet the needs of this group of visually impaired children.
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PMID:Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children. 1094 78

In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as Angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.(1) Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome. (2,3) We present the case of a child with strabismus associated with Angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients.
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PMID:Ophthalmic manifestations of Angelman syndrome. 1095 4

The report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. Karyotypes were normal. Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as ataxia-telangiectasia, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from cataract or vitreous hemorrhage. The similar morphologic and clinical features of both patients raise the possibility that they have an identical syndrome.
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PMID:Periodic alternating nystagmus in two children with a similar, unusual phenotype. 1111 1


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