RESUMO
BACKGROUND: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. CASE PRESENTATION: Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in infancy, was later diagnosed as focal segmental glomerulosclerosis, progressed to end-stage renal disease and was successfully transplanted. CONCLUSION: A systematic literature review suggests that 15-20 % of individuals with distal 6p duplication develop progressive proteinuric glomerulopathy. Monitoring of kidney function should be recommended in all cases.
Assuntos
Anormalidades Múltiplas/genética , Glomerulosclerose Segmentar e Focal/genética , Falência Renal Crônica/genética , Trissomia/genética , Adolescente , Agenesia do Corpo Caloso/genética , Cromossomos Humanos Par 6/genética , Craniossinostoses/genética , Feminino , Perda Auditiva Bilateral/genética , Humanos , Hidrocefalia/genética , Falência Renal Crônica/cirurgia , Transplante de Rim , Microftalmia/genética , Microstomia/genética , Hipotonia Muscular/genética , Estenose Subvalvar Pulmonar/genética , Costelas , Sinostose/genéticaRESUMO
Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20mm intercommissural distance allows acceptable function without the need for surgical correction.
Assuntos
Fissura Palatina/patologia , Micrognatismo/patologia , Microstomia/patologia , Anodontia/patologia , Cefalometria/métodos , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 16/genética , Fissura Palatina/genética , Fissura Palatina/cirurgia , Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Seguimentos , Ligação Genética/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Masculino , Má Oclusão/terapia , Transtornos Mentais/genética , Micrognatismo/genética , Micrognatismo/cirurgia , Microstomia/genética , Microstomia/cirurgia , Mucosa Bucal/transplante , Mucosa Nasal/cirurgia , Músculos Palatinos/cirurgia , Periósteo/transplante , Retalhos Cirúrgicos/transplante , Língua/anormalidadesAssuntos
Proteínas de Homeodomínio/genética , Anormalidades Maxilomandibulares/genética , Microstomia/genética , Mutação , Consanguinidade , Orelha Externa/anormalidades , Orelha Externa/patologia , Feminino , Heterozigoto , Humanos , Recém-Nascido , Anormalidades Maxilomandibulares/patologia , Masculino , Microstomia/patologiaRESUMO
Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed.
Assuntos
Otopatias/diagnóstico , Otopatias/genética , Brasil , Criança , Cromossomos Humanos Par 1/genética , Orelha/anormalidades , Feminino , Heterogeneidade Genética , Ligação Genética , Humanos , Mandíbula/anormalidades , Microstomia/genética , Linhagem , Articulação Temporomandibular/anormalidadesRESUMO
The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation. The symptomatology is worsened by breathing and swallowing disorders due to the small orifices of the mouth and nose, which sometimes require tracheotomy to avoid obstruction of the airways.
Assuntos
Anormalidades Múltiplas , Pé Torto Equinovaro/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/cirurgia , Artrogripose/genética , Braquetes , Broncopneumonia/etiologia , Pré-Escolar , Pé Torto Equinovaro/cirurgia , Genes Recessivos , Luxação Congênita de Quadril/genética , Luxação Congênita de Quadril/cirurgia , Humanos , Cifose/congênito , Cifose/genética , Cifose/cirurgia , Cifose/terapia , Microstomia/genética , Microstomia/cirurgia , Atrofia Muscular/genética , Reoperação , Insuficiência Respiratória/etiologia , Escoliose/congênito , Escoliose/genética , Escoliose/cirurgia , Escoliose/terapia , Síndrome , TraqueotomiaRESUMO
Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental retardation, growth deficiency, poor motor ability, micrognathia, microcephaly, congenital heart defects, and kidney abnormalities. The oral findings typically observed in these patients are: cleft lip and a high, narrow, and sometimes cleft palate. The degree of severity of the malformations is directly related to life expectancy. Only 5% to 10% of affected infants survive beyond the first year of life. Although trisomy 18 has been widely investigated from a medical standpoint, there is a lack of reports addressing the oral manifestations and dental treatment approach in affected children, presumably due to their shortened life expectancy. The purpose of this article was to present the case of an 8-year-old child diagnosed with trisomy 18 and address the clinical features observed--emphasizing the disease-specific oral, craniofacial, and dental findings. Dental care management of the patient is described.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 18 , Fenda Labial/genética , Assistência Odontológica para Pessoas com Deficiências , Palato Duro/anormalidades , Trissomia , Criança , Cárie Dentária , Feminino , Humanos , Microcefalia/genética , Micrognatismo/genética , Microstomia/genética , Síndrome , Anormalidades Dentárias/genéticaRESUMO
We report a family in which a father and his three children are affected with microstomia, micrognathia and partial or complete cleft of the hard and soft palate. The probands were non-identical twins, a boy and a girl, both noted to have the above features soon after birth. Their father was diagnosed with a submucous cleft of the palate at the age of 4 years and their older brother has milder facial features and a bifid uvula. All affected family members were demonstrated to have a fragile site on chromosome 16q22 but otherwise normal karyotypes. Of interest is a previously described family with autosomal dominant inheritance of U-shaped cleft palate, microstomia, micrognathia and oligodontia where all affected members were shown to have the fragile site at 16q22 in a proportion of their cells [Bettex et al. (1998) Eur J Pediatr Surg 8:4-8]. We propose that these two conditions are the same and represent a distinctive syndrome involving aberrant orofacial development that may be linked to the fragile site at 16q22.
Assuntos
Cromossomos Humanos Par 16 , Fissura Palatina/genética , Ligação Genética , Micrognatismo/genética , Microstomia/genética , Adulto , Criança , Pré-Escolar , Sítios Frágeis do Cromossomo , Fragilidade Cromossômica , Fissura Palatina/patologia , Saúde da Família , Feminino , Genes Dominantes , Humanos , Masculino , Micrognatismo/patologia , Microstomia/patologia , Gêmeos DizigóticosRESUMO
Four cases of an until now undescribed syndrome have been observed in Berne in the last 40 years. All four cases are members of the same family and have occurred in three consecutive generations. They present with a U-shaped palatal cleft, microstomia, hypoplasia of the mandibula and a partial anodontia. An autosomal dominant heredity was demonstrated. Karyograms have been made in three of the patients and in all patients showed an anomaly in the form of a "fragile site" in one chromosome (16 fra 16 [q22]). Surgical and orthopedic treatments were difficult.
Assuntos
Anormalidades Múltiplas/genética , Anodontia/genética , Fissura Palatina/genética , Micrognatismo/genética , Microstomia/genética , Adulto , Sítios Frágeis do Cromossomo , Fragilidade Cromossômica , Cromossomos Humanos Par 16 , Feminino , Genes Dominantes , Humanos , Lactente , Recém-Nascido , Cariotipagem , Masculino , Linhagem , SíndromeRESUMO
We report on several relatives in 5 generations of one family with prominence of the ears, with a marked constriction at the junction between the lower and middle thirds of the pinna. Computerized tomography and radiographs in the propositus and his affected father showed abnormalities of the condyle of the mandible. The propositus had more severe changes in the condyle with microstomia and reduced range of motion of the mandible in the temporomandibular joint. There was no hearing loss or abnormalities of the bones of the middle ear.
Assuntos
Orelha Externa/anormalidades , Côndilo Mandibular/anormalidades , Criança , Orelha Externa/diagnóstico por imagem , Humanos , Masculino , Côndilo Mandibular/diagnóstico por imagem , Microstomia/diagnóstico por imagem , Microstomia/genética , Microstomia/patologia , Radiografia , Síndrome , Articulação Temporomandibular/anormalidades , Tomografia Computadorizada de EmissãoRESUMO
Oral, clinical, genetic and dermatoglyphic findings of a female patient with hemifacial microsomia are described and compared with those cited in the literature.
Assuntos
Assimetria Facial/genética , Microstomia/genética , Criança , Dermatoglifia , Assimetria Facial/patologia , Facies , Feminino , Humanos , Microstomia/patologia , LinhagemRESUMO
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
Assuntos
Transtornos do Crescimento/diagnóstico , Microstomia/diagnóstico , Miotonia/diagnóstico , Osteocondrodisplasias/diagnóstico , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Feminino , Seguimentos , Transtornos do Crescimento/genética , Humanos , Lactente , Recém-Nascido , Pneumopatias/etiologia , Microstomia/genética , Miotonia/genética , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Radiografia , SíndromeAssuntos
Displasia Cleidocraniana/genética , Doenças em Gêmeos/genética , Assimetria Facial/genética , Incisivo/anormalidades , Má Oclusão Classe II de Angle/genética , Anormalidades da Boca/genética , Anodontia/genética , Distribuição de Qui-Quadrado , Pré-Escolar , Fenda Labial/genética , Fissura Palatina/genética , Feminino , Humanos , Lactente , Masculino , Microstomia/genética , Linhagem , Trigêmeos , Gêmeos Dizigóticos , Gêmeos MonozigóticosRESUMO
This paper illustrates a syndrome of distal limb deficiency and oral defects in two sibs, a moderately mentally retarded man and his mildly retarded sister. Both have microretrognathia, microstomia, normal tongue, and symmetric severe limb deficiencies. This seems to be a previously undescribed syndrome. The nosology of the different orofacial syndromes associated with distal limb deficiencies is discussed.
Assuntos
Anormalidades Múltiplas/genética , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros , Micrognatismo/genética , Microstomia/genética , Doenças da Boca/genética , Adulto , Feminino , Genes Recessivos , Humanos , Masculino , SíndromeRESUMO
Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondro-osseous features also differ from those observed in either of the other disorders. Scattered dense patches consisting of collagen fibers 10 to 30 times broader than normal are seen scattered throughout the cartilage matrix; the "Swiss cheese" appearance characteristic of Kniest dysplasia is not observed. These patients appear to have a new skeletal dysplasia, most likely inherited in an autosomal recessive fashion.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/patologia , Osso e Ossos/ultraestrutura , Cartilagem/ultraestrutura , Ectopia do Cristalino/genética , Feminino , Genes Recessivos , Humanos , Lactente , Masculino , Microstomia/genética , Radiografia , SíndromeRESUMO
Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.
Assuntos
Artrogripose/genética , Pé Torto Equinovaro/genética , Dedos/anormalidades , Microstomia/genética , Doenças da Boca/genética , Doenças Musculares/genética , Adulto , Artrogripose/classificação , Biópsia , Dermatoglifia , Eletromiografia , Feminino , Humanos , Masculino , Músculos/patologia , Doenças Musculares/patologia , SíndromeRESUMO
A new case with distinctive features of Schwartz-Jampel syndrome is reported, which makes the patient number 28 after reviewing world literature on the subject. Clinical, genetic, neurophysiological and pathological point of view is studied. The myotonic discharges which the patient presented while resting, did not diminish either with general anesthesia or with curarization, being this the pattern of a true myotonia.
