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/patologiaRESUMO
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 , SíndromeRESUMO
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.
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 , SíndromeRESUMO
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/epidemiologiaRESUMO
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.
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.
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/etiologiaRESUMO
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 imagemRESUMO
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.