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)

A case of gingival fibromatosis with hypertrichosis is reported in a 10 year old girl. The condition is a syndrome and presents as a triad of gingival fibromatosis, hypertrichosis and mental retardation. Following surgical management, no recurrence was seen in the immediate post-surgical period. Even if recurrence occurs excision is recommended as the psychological benefits resulting from cosmetic improvement outweigh the danger of recurrence.
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PMID:Idiopathic gingival fibromatosis associated with mild hypertrichosis. 182 Apr 29

Forty-nine cases of isolated familial and idiopathic gingival fibromatoses, consisting of 12 cases from six families and 37 cases of idiopathic gingival fibromatosis, were reviewed. Pedigrees of five families revealed various penetrances and genetic heterogeneity as suggested by the presence of both autosomal dominant and autosomal recessive inheritances. Ultrastructurally, the lesions were composed of fibroblast-like cells and myofibroblast-like cells, with the former being the predominant cell type. The 267 cases of familial and idiopathic gingival fibromatoses were analyzed, and they with or without hypertrichosis, mental retardation, and/or epilepsy. These included 49 cases seen by the authors, 50 cases from the Japanese literature, and 168 cases from non-Japanese literature. Isolated gingival fibromatosis occurred more frequently after age of 12 years (P less than 0.0074). There was no significant difference in age of onset between generalized and localized forms of the idiopathic gingival fibromatosis. Gingival fibromatosis with hypertrichosis and mental retardation and/or epilepsy occurred frequently before 12 years (P less than 0.069). It has been shown that heterogeneity of the gingival fibromatosis is a result of either histologic heterogeneity, genetic heterogeneity, or a combination with other systemic disorders.
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PMID:Heterogeneity in the gingival fibromatoses. 191 58

Gingival fibromatosis, a rare but often familial condition, is described in two siblings, associated with mental retardation, epilepsy and hypertrichosis. In one child a maxillary giant-cell tumour was found and excised. It is important to distinguish idiopathic gingival fibromatosis from phenytoin-induced gingival hypertrophy.
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PMID:Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. 280 37

Gingival fibromatosis may be reported as an isolated finding or associated with a number of distinct and frequently inherited group of disorders. The characteristics of the Laband syndrome include gingival hyperplasia, dysplasia of the terminal phalanges and nails of extremities, hepatosplenomegaly and facial dysmorphism. Another well-known syndrome with gingival fibromatosis associates generalized hypertrichosis and inconstant mental retardation and epilepsy. We report a case with features of Laband syndrome and congenital marked hypertrichosis, suggesting overlap between these two genetic disorders.
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PMID:Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes. 781 25

Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature.
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PMID:Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? 1110 31

Gingival fibromatosis is usually seen as an isolated finding or occasionally in association with other features as part of a syndrome. The combination of gingival enlargement, hypertrichosis, epilepsy and mental retardation is also a commonly reported syndrome that features gingival fibromatosis. The following report is about a mentally retarded patient who has shown no sign of hypertrichosis, but has been taking phenobarbital as a long-term therapy drug for anti-convulsion. Long-term management of this patient has been carried out from the age of one-and-a-half years to 14 years old. The patient's clinical features, treatment received, histopathologic presentation of gingival fibromatosis and proper management of the condition are discussed.
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PMID:Long-term management of an idiopathic gingival fibromatosis patient with the primary dentition. 1180 Apr 53

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Other more variable features include hyperextensibility of joints, hepatosplenomegaly, mild hirsutism, and mental retardation. The genetic basis of ZLS is unknown; autosomal dominant inheritance has been suggested. We report an apparently balanced chromosomal aberration, 46,XX, t(3;8)(p13-p21.2;q24.1-q24.3), in a family with an affected mother and daughter. Using fluorescence in situ hybridization with BAC clones, we refined the breakpoints to 3p21.2 and 8q24.3 and, thereby, narrowed down both breakpoint regions to approximately 1.5 Mb. Our data provide additional support to the assumption that ZLS follows autosomal dominant inheritance. The 3;8 translocation described here represents a powerful resource to identify the causative gene for ZLS that maps most likely to one of the breakpoints.
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PMID:Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions. 1259 95

Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy. The girl also presented important radiological characteristics such as broad medulary canals and metaphyses of long bones, thin cortices, broad ribs, accelerated skeletal maturation as well as high intelligence level. A wide clinical spectrum in ZLS is also considered.
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PMID:Zimmermann-Laband syndrome: further clinical delineation. 1626 93

Zimmermann-Laband syndrome (ZLS) is a rare autosomal dominant inherited disorder characterized by a coarse facial appearance, gingival fibromatosis, and absence or hypoplasia of the terminal phalanges and nails of hands and feet. Additional, more variable features include hyperextensibility of joints, hepatosplenomegaly, mild hirsutism, and mental retardation. Mapping of the translocation breakpoints of t(3;8) and t(3;17) found in patients with the typical clinical features of ZLS defined a common breakpoint region of approximately 280 kb located in 3p14.3, which includes the genes CACNA2D3 and WNT5A. Breakpoint cloning revealed that both translocations most likely occurred by non-homologous (illegitimate) recombination. Mutation analysis of nine genes located in 3p21.1-p14.3, including CACNA2D3, which is directly disrupted by one breakpoint of the t(3;17), identified no pathogenic mutation in eight sporadic patients with ZLS. Southern hybridization analysis and multiplex ligation-dependent probe amplification (MLPA) did not detect submicroscopic deletion or duplication in either CACNA2D3 or WNT5A in ZLS-affected individuals. Mutation analysis of nine conserved nongenic sequence elements (CNEs) in 3p21.1-p14.3, which were identified by interspecies comparison and may represent putative regulatory elements for spatiotemporally correct expression of nearby genes, did not show any sequence alteration associated with ZLS. Taken together, the lack of a specific coding-sequence lesion in the common region, defined by two translocation breakpoints, in sporadic patients with ZLS and an apparently normal karyotype suggests that either some other type of genetic defect in this vicinity or an alteration elsewhere in the genome could be responsible for ZLS.
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PMID:Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. 1793 36

Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, absence and/or hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and mental retardation. The syndromic characteristics of Zimmermann-Laband syndrome are highly variable and complicated. This paper described a patient with Zimmermann-Laband syndrome with new manifestations and discusses the possible underlying genetic mechanisms.
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PMID:Report of a case of Zimmermann-Laband syndrome with new manifestations. 2045 11


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