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

Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid slant, dysplasia and hypolasis of the nails, clindactyly of the 5th fingers, and abnormal dermatoglyphs. It appears that the 'trisomy 9p syndrome' in its variant forms, including trisomies for more or less than just the short (p) arm, is one of the most common clinical autosome anomalies in humans, exceeded only by trisomy 21 (Down's syndrome) and possibly trisomies of chromosomes 13 and 18.
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PMID:Familial 'partial 9p' trisomy: six cases and four carriers in three generations. 5 62

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.
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PMID:Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. 11 10

The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
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PMID:[Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)]. 22 86

Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders.
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PMID:Metaphyseal chondrodysplasia. 33 75

We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
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PMID:Ocular findings in triploidy. 41 37

2851 radiodiagnostic examinations of the skull made in a psychiatric hospital between 1958 and 1977 were reviewed for enostosis frontalis. Out of 1398 female patients there were 125 cases of enostosis frontalis, whereas out of the 1453 male there were only 5. Hence, in females, this is a frequent condition (9%) and shows no correlation with manifest hormonal disease or any particular neuro-psychiatric disturbance. Enostosis frontalis in females can be considered to be an inconstant secondary sex characteristic. In male patients this condition is extremely rare (0.32%). The case histories of the male patients are reported. Endocrine disturbances, cerebral dysplasia and psychiatric disease in connection with mental retardation seem to be associated with enostosis frontalis in men.
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PMID:[Is enostosis frontalis a disease process? (author's transl)]. 50 90

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

Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.
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PMID:Cerebro-facio-thoracic dysplasia: report of three cases. 120 88

Retinitis pigmentosa or pigmentary retinal dystrophy is the most important group among the tapeto-retinal dystrophies. The degenerative process found in the retina has, in many cases, a corresponding counterpart in other parts of the body, most commonly in the CNS. Combinations of retinal dystrophy, and for instance, deafness or mental retardation are well known. Also combinations of retinal dystrophy and metabolic dyscrasia have been reported. Only few reports on the combination of retinal dystrophy and dermatological affections have been found. We have found two cases of almost total alopecia combined with retinal dystrophy. Since we have succeeded in finding a few similar cases in the literature we consider this apparently rare combination worth a somewhat closer analysis as it might constitute a specific entity.
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PMID:Retinal dystrophy combined with alopecia. 124 2


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