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1.
J Comp Pathol ; 147(2-3): 214-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22520811

RESUMO

An 11-year-old female German shepherd dog was presented with a history of lameness and pain in the left forelimb. Clinical examination revealed ataxia of the hindlimbs and a subcutaneous mass in the left prescapular region. Radiography revealed metastatic foci in the left humerus, lung and abdomen. Gross necropsy examination revealed a firm, white mass in the left prescapular region. Multiple nodules with similar characteristics were observed in the lung, liver and spleen. Bone lysis was noted in the humerus and the fifth to seventh lumbar vertebrae. Microscopical examination revealed a proliferation of basal cells forming irregular islands of various sizes and surrounding extensive zones of keratinized 'ghost' cells. A definitive diagnosis of malignant pilomatricoma was made. This is a rare tumour in dogs with no previous report of metastasis to the spleen and liver.


Assuntos
Doenças do Cão/patologia , Doenças do Cabelo/veterinária , Pilomatrixoma/veterinária , Neoplasias Cutâneas/veterinária , Animais , Neoplasias Ósseas/secundário , Neoplasias Ósseas/veterinária , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/veterinária , Diagnóstico Diferencial , Cães , Feminino , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/patologia , Úmero/patologia , Vértebras Lombares/patologia , Pilomatrixoma/secundário , Neoplasias Cutâneas/patologia
3.
Hum Genet ; 102(5): 499-506, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9654197

RESUMO

Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect, clinical and genotype data on 48 families (271 WS individuals) collected by members of the Waardenburg Consortium were pooled. Forty-two unique mutations in the PAX3 gene, previously identified in these families, were grouped in five mutation categories: amino acid (AA) substitution in the paired domain, AA substitution in the homeodomain, deletion of the Ser-Thr-Pro-rich region, deletion of the homeodomain and the Ser-Thr-Pro-rich region, and deletion of the entire gene. These mutation classes are based on the structure of the PAX3 gene and were chosen to group mutations predicted to have similar defects in the gene product. Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using generalized estimating equations, which allowed for incorporation of a correlation structure that accounts for potential similarity among members of the same family. Odds for the presence of eye pigment abnormality, white forelock, and skin hypopigmentation were 2, 8, and 5 times greater, respectively, for individuals with deletions of the homeodomain and the Pro-Ser-Thr-rich region compared to individuals with an AA substitution in the homeodomain. Odds ratios that differ significantly from 1.0 for these traits may indicate that the gene products resulting from different classes of mutations act differently in the expression of WS. Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for AA substitution in the paired domain compared with AA substitution in the homeodomain, this odds ratio did not differ significantly from 1.0.


Assuntos
Proteínas de Ligação a DNA/genética , Mutação , Fatores de Transcrição , Síndrome de Waardenburg/genética , Genótipo , Transtornos da Audição/genética , Humanos , Razão de Chances , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados , Fenótipo , Transtornos da Pigmentação/genética , Síndrome de Waardenburg/diagnóstico
4.
Clin Dysmorphol ; 7(1): 75-6, 1998 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9546838

RESUMO

An apparently new case of the acromegaloid facial appearance syndrome is reported. The main clinical findings were coarse facies and thickened lips, oral mucosa and upper eyelids. The patient also had macrocephaly with an arachnoid cyst in the right middle fossa, an anomaly not previously described in association with this syndrome.


Assuntos
Acromegalia/diagnóstico , Fácies , Acromegalia/complicações , Acromegalia/patologia , Cistos Aracnóideos/complicações , Feminino , Humanos , Lactente , Síndrome
5.
J Pediatr (Rio J) ; 73(4): 239-43, 1997.
Artigo em Português | MEDLINE | ID: mdl-14685397

RESUMO

OBJECTIVE: To investigate the causes of pre-verbal deafness in an institutionalized population emphasizing genetic etiology, considering the scarceness of national data in this field. METHODS: Based on the promptuaries of 658 pupils from 18 institutions for deaf people in Recife, information about audiological tests, laboratory examinations, etiology, associated anomalies, consanguinity and other deaf persons in the family was obtained; dysmorphologic examination was performed in 557 pupils; all the families with recurrent cases of deafness were investigated, having the pertinent pedigrees been constituted. RESULTS: About 13% of the studied population probably manifest genetic deafness; the autosomal recessive, autosomal dominant and X-linked recessive patterns of inheritance were observed, respectively, in 87.7%, 8.8% and 3.5% of the familial cases; among the examined pupils, 4.3% presented specific dysmorphic syndromes or anomalies associated with deafness; the acquired causes and unknown etiology were represented by 41.5% and 45.5% respectively. CONCLUSIONS: Obtained frequencies for the distinct causal factors of pre-verbal deafness are within the spectrum of variation of the frequencies observed in similar works, pointing out that in a great number of cases the etiology is unknown.

6.
Clin Genet ; 52(1): 51-5, 1997 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9272713

RESUMO

In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. This combination of anomalies appears to be a previously undescribed syndrome, with probable autosomal recessive inheritance.


Assuntos
Anormalidades Múltiplas , Anormalidades Craniofaciais , Criptorquidismo , Surdez , Transtornos do Crescimento , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Adulto , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Criança , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Criptorquidismo/genética , Surdez/genética , Surdez/fisiopatologia , Feminino , Genes Recessivos , Transtornos do Crescimento/diagnóstico por imagem , Transtornos do Crescimento/genética , Humanos , Masculino , Linhagem , Radiografia , Síndrome
7.
Genomics ; 35(1): 1-5, 1996 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-8661097

RESUMO

Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil. We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.


Assuntos
Cromossomos Humanos Par 4/genética , Síndrome de Ellis-Van Creveld/genética , Etnicidade/genética , Brasil/epidemiologia , Mapeamento Cromossômico , Consanguinidade , Equador/epidemiologia , Síndrome de Ellis-Van Creveld/etnologia , Genes Recessivos , Ligação Genética , Haplótipos/genética , Humanos , México/epidemiologia , Linhagem , Pennsylvania/epidemiologia
8.
J Pediatr (Rio J) ; 71(6): 297-302, 1995.
Artigo em Português | MEDLINE | ID: mdl-14688978

RESUMO

In this article, we present a brief literature review of hereditary deafness, considering the main historical aspects, genetic heterogeneity, gene mapping and the problems related to genetic counseling.

9.
J Pediatr (Rio J) ; 71(6): 344-8, 1995.
Artigo em Português | MEDLINE | ID: mdl-14688986

RESUMO

We report the clinical history of two brothers with the classical Cockayne syndrome. The main manifestations consisted of cachectic dwarfism, mental retardation, intracranial calcifications, microcephaly, enophthalmos, senile appearance, joint hypomotility and skin photosensitivity. In one of these children, who died at 10 years of age of bronchopneumonia, necropsy studies revealed a variety of anomalies, mainly encephalic,which included an arachnoidal cyst at the base of the cerebellum, a defect apparently previously undescribed inpatients with this syndrome.

10.
Hum Hered ; 43(6): 371-4, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-8288268

RESUMO

A 5-year-old girl with Klippel-Feil anomaly and bimanual polydactyly of triphalangeal thumb is described. The main findings include--in addition to the classical congenital fusion of cervical vertebrae and the clinical triad of short neck, limitation of head and neck movement and low-set posterior hairline--several associated abnormalities: scoliosis, spina bifida occulta, absence of ribs, conductive hearing loss, mirror movements, unilateral renal ectopia with dilation of the collecting system, and microtia. The hand malformation appears to represent a previously unreported defect associated with Klippel-Feil anomaly.


Assuntos
Síndrome de Klippel-Feil/patologia , Polidactilia/patologia , Polegar/anormalidades , Pré-Escolar , Feminino , Humanos , Síndrome de Klippel-Feil/complicações , Polidactilia/etiologia
11.
Clin Genet ; 44(1): 20-5, 1993 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8403450

RESUMO

A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cephalograms of 28 patients. Pairs between patients and controls of the same sex and age were established for comparison. The head circumference, clivus length and facial depth were smaller in affected individuals. The patients also had narrow nose, marked hypoplasia of the nasal bone, short philtrum, and short and retropositioned maxilla. A discriminant analysis revealed that the inner intercanthal distance, philtrum length, lower facial height and nasal bone length were excellent discriminating parameters of WSI.


Assuntos
Face/anormalidades , Crânio/anormalidades , Síndrome de Waardenburg/patologia , Adolescente , Adulto , Idoso , Antropometria , Cefalometria , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Radiografia , Crânio/diagnóstico por imagem
12.
Nature ; 355(6361): 637-8, 1992 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-1347149

RESUMO

Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This demonstrates a mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness. The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression. The mutation occurred in 100% of the cases with the disease in this family and was absent in a random sample of 50 unrelated control subjects. Identification of the Waardenburg's syndrome gene and future characterization of its gene product is likely to increase our understanding of the pathogenesis of this disorder and may allow prevention of deafness of this type.


Assuntos
Éxons , Genes Homeobox/genética , Fatores de Transcrição , Síndrome de Waardenburg/genética , Sequência de Aminoácidos , Sequência de Bases , Cromossomos Humanos Par 2 , Proteínas de Ligação a DNA/genética , Humanos , Conformação Molecular , Dados de Sequência Molecular , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados , Reação em Cadeia da Polimerase , Polimorfismo Genético , Mapeamento por Restrição
13.
Am J Med Genet ; 40(1): 65-74, 1991 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-1887852

RESUMO

Two large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock, premature greying, and hypopigmented skin lesions. These and other aspects of the syndrome, associated findings, frequency, genetic heterogeneity, pathogenesis, animal models, and gene linkage and mapping are reviewed briefly.


Assuntos
Síndrome de Waardenburg/fisiopatologia , Idoso , Animais , Brasil , Criança , Feminino , Frequência do Gene , Genes Dominantes , Humanos , Masculino , Linhagem , Síndrome de Waardenburg/genética
14.
Am J Med Genet ; 29(4): 837-43, 1988 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-3400727

RESUMO

This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Deficiência Intelectual/genética , Microcefalia/genética , Feminino , Genes Recessivos , Humanos , Recém-Nascido , Masculino , Tomografia Computadorizada por Raios X
15.
Am J Med Genet ; 18(2): 237-47, 1984 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-6465200

RESUMO

We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.


Assuntos
Anormalidades Múltiplas/genética , Sinostose/genética , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Idoso , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Síndrome , Sinostose/diagnóstico
19.
J Med Genet ; 17(5): 349-56, 1980 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-7218275

RESUMO

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.


Assuntos
Consanguinidade , Síndrome de Ellis-Van Creveld/genética , Brasil , Feminino , Genes Recessivos , Humanos , Masculino , Linhagem , Fenótipo
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