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

Waardenburg syndrome (WS), the most common form of inherited congenital deafness, is a pleiotropic, autosomal dominant condition with variable penetrance and expressivity. WS is clinically and genetically heterogeneous. The basis for the phenotypic variability observed among and between WS families is unknown. However, mutations within the paired-box gene, PAX3, have been associated with a subset of WS patients. In this report we use cytogenetic and molecular genetic techniques to study a patient with WS type 3, a form of WS consisting of typical WS type 1 features plus mental retardation, microcephaly, and severe skeletal anomalies. Our results show that the WS3 patient has a de novo paternally derived deletion, del (2)(q35q36), that spans the genetic loci PAX3 and COL4A3. A molecular analysis of a chromosome 2 deletional mapping panel maps the PAX3 locus to 2q35 and suggests the locus order: centromere-(INHA, DES)-PAX3-COL4A3-(ALPI, CHRND)-telomere. Our analyses also show that a patient with a cleft palate and lip pits, but lacking diagnostic WS features, has a deletion, del (2)(q33q35), involving the PAX3 locus. This result suggests that not all PAX3 mutations are associated with a WS phenotype and that additional regional loci may modify or regulate the PAX3 locus and/or the development of a WS phenotype.
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PMID:Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. 810 4

We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis.
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PMID:A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation. 811 Apr 19

This study compares a subpopulation of persons with cleft lip/palate who have mental retardation (n = 56) to those with normal learning (n = 420), at a large university-based cleft-craniofacial center. Many of the patients identified as having mental retardation in this sample have the diagnosis of isolated cleft palate (46.8%). Nearly half (46.3%) of the patients with mental retardation were found to have multiple anomalies, syndromes or associated medical findings. Common findings included cardiopulmonary defects, seizures, and deviations in head size. In this clinic population, mental retardation was found more commonly among African-American patients with clefts, than among Caucasian patients with clefts. Higher rates of facial disfiguration and impaired speech were found in patients with clefts and mental retardation. This research demonstrates that among a population of persons with cleft lip and/or cleft palate, there is a subpopulation of children who also have mental retardation. Craniofacial-cleft teams will need to develop strategies to address the special needs of this group of patients.
Cleft Palate Craniofac J 1993 Nov
PMID:Children with cleft lip/palate and mental retardation: a subpopulation of cleft-craniofacial team patients. 828 Jul 32

A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.
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PMID:Familial partial duplication (1)(p21p31). 859 51

We report a case of the Wildervanck (cervico-oculo-acoustic) syndrome exhibiting Klippel-Feil anomaly, congenital sensorineural deafness and bilateral sixth nerve palsy. Associated anomalies included short stature, microcephaly, mental retardation, and cleft palate.
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PMID:Wildervanck syndrome. 868 51

Three cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo-gnatho-palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE association.
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PMID:Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst. 874 Nov 11

Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal recessive disorder. Children with SLOS present with specific facial dysmorphism and have multiple congenital anomalies including cleft palate, congenital heart disease, genitourinary anomalies, and limb abnormalities. They also manifest severe failure to thrive and mental retardation. A metabolic defect at the final step in the cholesterol biosynthetic pathway has been described in SLOS patients. This defect results in markedly reduced cholesterol levels and abnormal accumulation of cholesterol precursors, particularly 7-dehydrocholesterol. This newly described metabolic defect in humans is one of only a few metabolic errors known to cause multiple birth defects. The biochemical profile of reduced plasma cholesterol levels in association with markedly elevated levels of the cholesterol precursor 7-dehydrocholesterol is now used to confirm the diagnosis of SLOS, which was formerly made on purely clinical grounds. This biochemical abnormality has been confirmed in dozens of patients with SLOS in both the United States and Europe. The severe cholesterol deficiency seen in these patients has multiple effects on health and early childhood development, because cholesterol is an essential component of many cell functions, which explains many of the clinical findings seen in SLOS.
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PMID:Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. 877 24

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
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PMID:Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. 878 53

The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated.
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PMID:Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. 882 34

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15


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