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

A patient is reported with a syndrome of mental retardation, congenital microcephaly, cleft palate, congenital heart defect, eventration of the diaphragm, optic atrophy, and glaucoma. Her facies was Crouzon-like and craniosynostosis, although not present at 10 months, was demonstrated postmortem at 29 months. It is suggested that she is an example of a true multiple congenital anomaly-mental retardation syndrome rather than an example of Crouzon syndrome with additional anomalies.
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PMID:Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. 89 93

A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.
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PMID:A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency. 89 Jan 1

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity. Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.
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PMID:An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly. 2041 79

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.
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PMID:A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome. 96 92

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).
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PMID:Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases. 111

Recently, an association between telecanthus and/or hypertelorism and hypospadias has been reported in several families. We describe six more families in whom we have found this association. Seven of the eight affected individuals were males. The other was a girl with hypertelorism and a minor urethral abnormality. The mothers in all six families had hypertelorism and/or telecanthus. Mental retardation and cleft palate were also common in our families and those reported previously. The radiologic findings in our first family, which was reported elsewhere as the "branchio-skeletal-genital syndrome," are considered in detail and include skull abnormalities, maxillary hypoplasia, dentigerous cysts and vertebral abnormalities.
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PMID:The hypertelorism-hypospadias syndrome. 122 21

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.
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PMID:A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate. 122 19

Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.
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PMID:Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. 145 79

Stickler syndrome is a dominantly inherited disorder characterized by ocular and nonocular manifestations. The phenotype of the affected patients is known to be variable. Our study of 3 families and a review of the literature show that the variability is mostly interfamilial while in each family less variability is present. In one family all the patients had high myopia and most developed a retinal detachment at a young age. In the second family the major symptoms were cleft palate and characteristic facial changes in presence of mild ocular changes. In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation. Interfamilial variability coupled with intrafamilial similarities in clinical manifestation may indicate that the so-called Stickler syndrome represents in fact a phenotype and not a single genetic entity.
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PMID:Variability of Stickler syndrome. 153 74

We report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome.
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PMID:Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents. 160 28


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