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1.
Case Rep Otolaryngol ; 2013: 272314, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23853729

RESUMO

Gorlin Syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition characterized by developmental abnormalities and predisposition to certain neoplasms. Acute invasive fungal rhinosinusitis (AIFRS) is an uncommon clinical entity characterized by high morbidity and mortality. In immunocompromised patients, computed tomography plays a critical role in screening for suspected AIFRS. However, due to the association between exposure to ionizing radiation and subsequent development of malignancies in patients with GS, patients with GS and suspected AIFRS present a unique and challenging clinical scenario. We present a case of a pediatric patient with GS and acute lymphocytic leukemia (ALL) diagnosed with AIFRS; to the best of our knowledge, it is the only case described in the literature.

2.
AJNR Am J Neuroradiol ; 22(5): 810-7, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11337320

RESUMO

BACKGROUND AND PURPOSE: Mutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain development and because 30% to 50% of children with NF-1 display macrocephaly in the absence of hydrocephalus, we sought to determine the relationship between macrocephaly and other brain abnormalities in young subjects with NF-1. These subjects were free of brain tumor, epilepsy, or other obvious neurologic problems. METHODS: We prospectively screened 18 neurologically asymptomatic subjects with NF-1, ages 6 to 16 years, using clinical measures, psychometric testing, conventional MR imaging, and quantitative MR imaging to measure T1. RESULTS: Cranial circumference was 2 or more SDs above the age norm in seven (39%) of 18 subjects, a frequency of macrocephaly 17-fold higher than normal. Conventional MR imaging showed abnormalities in all 18 children, although there were more extensive abnormalities in subjects with macrocephaly. Macrocephaly in NF-1 was associated with enlargement of multiple brain structures, and brain T1 in macrocephalic subjects was reduced with respect to controls in the genu, frontal white matter, caudate, putamen, thalamus, and cortex. In normocephalic subjects, T1 was reduced only in the genu and splenium. Volumetric analysis showed that macrocephaly was associated specifically with enlargement of white matter volume. CONCLUSION: Neurologically asymptomatic children with NF-1 showed macrocephaly, cognitive deficit, enlarged brain structures, and abnormally low brain T1. Macrocephaly in children with NF-1 may be associated with characteristic alterations in brain development, marked by more widespread and significant changes in T1, greater enlargement of midline structures, and greater volume of white matter.


Assuntos
Encéfalo/patologia , Cabeça/anormalidades , Cabeça/patologia , Neurofibromatose 1/diagnóstico , Adolescente , Criança , Anormalidades Congênitas/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos Prospectivos , Psicometria/métodos , Crânio/anormalidades , Crânio/patologia
3.
Clin Dysmorphol ; 10(2): 149-50, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11310997

RESUMO

A female patient with an extra chromosome 13 (Patau syndrome) is described. There are only five previous reports of patients with trisomy 13 who have survived past the first decade. It is concluded that non-lethal congenital anomalies and aggressive medical care play an important role in the survival of patients with trisomy 13.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/mortalidade , Cromossomos Humanos Par 13 , Trissomia , Anormalidades Múltiplas/terapia , Adulto , Feminino , Humanos
4.
Am J Med Genet ; 95(2): 108-17, 2000 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-11078559

RESUMO

Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in particular, cardiovascular malformations (CVMs), among 2322 patients with definite NF1 in the National Neurofibromatosis Foundation International Database from 1991-98. Cardiovascular malformations were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had Watson syndrome or NF1-Noonan syndrome. There was a predominance of Class II "flow" defects [Clark, 1995: Moss and Adams' Heart Disease in Infants, Children, and Adolescents Including the Fetus and Young Adult. p 60-70] (43/54, 80%) among the NF1 patients with CVMs. Pulmonic stenosis, that was present in 25 NF1 patients, and aortic coarctation, that occurred in 5, constitute much larger proportions of all CVMs than expected. Of interest was the paucity of Class I conotruncal defects (2 patients with tetralogy of Fallot), and the absence of atrioventricular canal, anomalous pulmonary venous return, complex single ventricle and laterality defects. Besides the 54 patients with CVMs, there were 27 patients with other cardiac abnormalities (16 with murmur, 5 with mitral valve prolapse, 1 with intracardiac tumor, and 5 with electrocardiogram abnormalities). No patient in this study had hypertrophic cardiomyopathy. There were 16 patients who had a peripheral vascular abnormality without an intracardiac CVM, plus an additional 4 patients among those with a CVM who also had a peripheral vascular abnormality.


Assuntos
Anormalidades Cardiovasculares/etiologia , Anormalidades Cardiovasculares/genética , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Sopros Cardíacos/complicações , Sopros Cardíacos/diagnóstico , Humanos , Masculino , Prolapso da Valva Mitral/complicações , Prolapso da Valva Mitral/diagnóstico , Síndrome de Noonan/complicações , Síndrome de Noonan/diagnóstico , Estenose da Valva Pulmonar/complicações , Estenose da Valva Pulmonar/diagnóstico , Síndrome
5.
Am J Med Genet ; 90(2): 131-40, 2000 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-10607952

RESUMO

The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.


Assuntos
Anormalidades Múltiplas , Progéria , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Tecido Adiposo/anormalidades , Feminino , Humanos , Recém-Nascido , Masculino , Radiografia , Síndrome
6.
Am J Med Genet ; 84(5): 413-9, 1999 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-10360395

RESUMO

Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural history and pathogenesis of PA in NF1. This report is a descriptive analysis of a large series of patients with NF1 and tibial bowing or PA. Study A is a case-control study using the National Neurofibromatosis Foundation International Database (NNFFID). Eighty-five patients with PA were compared to a control group from the same database. There was a statistically significant male predominance of NF1 cases with PA (54 males to 31 females), compared to controls (85 males to 87 females) (chi2 = 4.0, P = 0.046, using a two-tailed test with Yates' correction). There was no significant difference in the clinical presentation of NF1 manifestations in NF1 patients with PA than in NF1 patients without PA. Of the affected individuals with PA, there were 24 de novo cases and 21 familial cases (9 through maternal and 12 through paternal inheritance). Questions that could not be answered by Study A were addressed by a partially overlapping case-series report, Study B, in which data on 75 cases ascertained through questionnaires completed by NF center directors were collected. From Study B we determined that half of the patients who had a fracture sustained it before age 2, and approximately 16% of the pseudarthrosis patients had an amputation. Our data indicate a male predominance and no parent-of-origin effect. Male gender may be a susceptibility factor for pseudarthrosis in NF1.


Assuntos
Neurofibromatose 1/complicações , Pseudoartrose/etiologia , Fraturas da Tíbia/etiologia , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Bases de Dados Factuais , Suscetibilidade a Doenças , Feminino , Humanos , Lactente , Masculino , Pseudoartrose/epidemiologia , Inquéritos e Questionários , Fraturas da Tíbia/epidemiologia
7.
Clin Genet ; 55(3): 182-91, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10334472

RESUMO

This report expands on a study by Pryor [Pryor HB. Objective measurement of interpupillary distance. Pediatrics 1969: 44: 973 977] that related normal values of inner canthal distance (ICD), outer canthal distance (OCD) and interpupillary distance (IPD) for Whites, Asians and Mexican Americans. To date, no similar values have been reported for Blacks. Utilizing a sample (n = 931: 485 males; 446 females) of black people (range, birth 24 years), OCD, ICD, and head circumference (HC) were measured and tabulated. We calculated mean IPD according to Pryor's formulation and report that the general mean OCD and ICD in our sample differed significantly from, and were consistently higher than, Pryor's reported measurements for White males and females at each age level (p < 0.001). However, ICD in our sample was significantly lower at birth in both sexes, appeared to increase at a more rapid rate relative to Whites during the first 3 months of life, and reached and maintained a higher value beyond the age of 3 months, with most age groups showing a significant difference in mean ICD measurements. At each age level, the mean IPD values in Whites and Blacks were significantly higher (p < 0.001). Based upon these findings, we suggest that interpupillary distance of Black children and adults be assessed according to the mean proportions for their race.


Assuntos
População Negra , Iris/anatomia & histologia , Pupila/fisiologia , Fatores Etários , Antropometria/métodos , Interpretação Estatística de Dados , Feminino , Humanos , Masculino , População Branca
8.
Hum Genet ; 103(4): 382-5, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9856477

RESUMO

Alternative splicing of exons 29 and 30 of the human neurofibromatosis type 1 (NF1) gene was detected by reverse transcription/polymerase chain reaction (RT-PCR). Three different isoforms that omitted either one or both exons were identified (ex29-, ex30-, and ex29/30-). The alternatively spliced transcripts exhibited tissue-specific differences, with the ex30- variant apparent only in brain. All three isoforms altered the reading frame and introduced a stop codon in the adjacent downstream exon. Alternative splicing of this region of the NF1 gene also was detected in RNA from rats, although only the ex30- variant was observed. RNA from mice revealed only constitutive expression in this region of the NF1 gene. This study adds a new site of alternative processing to the complex expression of NF1.


Assuntos
Processamento Alternativo , Genes da Neurofibromatose 1 , Animais , Encéfalo/metabolismo , Éxons , Humanos , Camundongos , Ratos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Distribuição Tecidual
9.
Teratology ; 58(5): 205-8, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9839359

RESUMO

An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity. The infant expired soon after birth. The radiological findings included absence of the sternum, 11 right-sided ribs, absence of the middle third of the right clavicle, opaque right hemithorax, hypoplastic right tibia, absent right fibula and foot, and ectrodactyly of the right hand and left foot. In addition, the autopsy revealed two distinct diaphragmatic defects, an anterior midline defect of the diaphragm beneath the ectopic heart, and a large Bochdalek hernia, with abdominal contents in the chest. Our case has overlapping features with conditions such as thoracoabdominal syndrome, pentalogy of Cantrell, and limb-body wall complex, but the concurrence of midline body wall defect and ectrodactyly has not been described previously.


Assuntos
Anormalidades Múltiplas/patologia , Abdome/anormalidades , Diafragma/anormalidades , Evolução Fatal , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico por imagem , Radiografia , Esterno/anormalidades , Síndrome , Vértebras Torácicas/anormalidades , Vértebras Torácicas/diagnóstico por imagem
10.
J Med Genet ; 35(10): 813-20, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9783703

RESUMO

Neurofibromatosis type 1 (NF1) is caused by mutations in a tumour suppressor gene located on chromosome 17 (17q11.2). Disease causing mutations are dispersed throughout the gene, which spans 350 kilobases and includes 59 exons. A common consequence of NF1 mutations is introduction of a premature stop codon, and the majority of mutant genes encode truncated forms of neurofibromin. We used a protein truncation assay to screen for mutations in 15 NF1 patients and obtained positive results in 11 of them (73%). Sequencing of cDNA and genomic DNA yielded identification of 10 different mutations, including four splicing errors, three small deletions, two nonsense mutations, and one small insertion. Nine mutations were predicted to cause premature termination of translation, while one mutation caused in frame deletion as a result ofexon skipping. In one other case involving abnormal splicing, five different aberrantly spliced transcripts were detected. One germline nonsense mutation (R1306X, 3916C>T) corresponded to the same base change that occurs by mRNA editing in normal subjects. The second nonsense mutation (R2496X) was the sole germline mutation that has been previously described. The subjects studied represented typically affected NF1 patients and no correlations between genotype and phenotype were apparent. A high incidence of ocular hypertelorism was observed.


Assuntos
Mutação , Neurofibromatose 1/genética , Proteínas/genética , Adulto , Sequência de Bases , Criança , Pré-Escolar , Mapeamento Cromossômico , Cromossomos Humanos Par 17 , Análise Mutacional de DNA , DNA Complementar , Éxons/genética , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Neurofibromatose 1/patologia , Neurofibromina 1 , Biossíntese de Proteínas , Proteínas/química , RNA Mensageiro/análise , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Transcrição Gênica
11.
J Med Genet ; 35(8): 628-31, 1998 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9719366

RESUMO

We retrospectively compared patients with NF1 with and without optic pathway gliomas (OPG) to determine the incidence and range of orbital developmental abnormalities and compared the incidence of OPG in African-Americans and whites. From cranial MR scans, we manually measured 14 orbital dimensions, compared them to published standards of Waitzman et al, calculated orbital volumes, and determined the presence or absence of volumetric symmetry (delta v) (delta v < or = 3 cm3 was considered to be symmetrical). We compared the results of orbital configurational assessment between patients with (group I) and those without OPG (group II). The study population comprised 58 patients, 24 boys, 18 African-American, and one Hispanic. Median age at imaging was 7 years (range 0.5-25.5 years). Fifty-eight percent had conformational abnormalities, 16 of whom had more than one abnormality (28%), the most frequent being increased intertemporal distance (n=10), increased lateral orbital distance (n=8), increased medial wall length (n=6), and decreased medial wall length (n=6). The increased intertemporal and lateral orbital distances may contribute to the appearance of hypertelorism. Only two patients had sphenoid wing hypoplasia. We found a high incidence of orbital dimensional abnormalities in the total population but more often saw multiple abnormalities in patients with OPG. However, no pattern of configurational abnormality emerged. OPG is less frequent in African-Americans. Orbital volumetric disparity seems to be independent of the presence of OPG.


Assuntos
Neurofibromatose 1/patologia , Órbita/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Glioma/complicações , Glioma/epidemiologia , Glioma/patologia , Humanos , Incidência , Lactente , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/complicações , Neoplasias do Nervo Óptico/complicações , Neoplasias do Nervo Óptico/epidemiologia , Neoplasias do Nervo Óptico/patologia , Estudos Retrospectivos , Vias Visuais
12.
J Med Genet ; 35(4): 328-32, 1998 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9598730

RESUMO

The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.


Assuntos
Carcinoma Adrenocortical/genética , Ganglioneuroblastoma/genética , Mutação em Linhagem Germinativa , Proteína Supressora de Tumor p53/genética , Síndrome de Turner/genética , Carcinoma Adrenocortical/complicações , Carcinoma Adrenocortical/patologia , Feminino , Ganglioneuroblastoma/complicações , Ganglioneuroblastoma/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Linhagem , Tomografia Computadorizada por Raios X , Síndrome de Turner/complicações
13.
Am J Med Genet ; 76(3): 222-8, 1998 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-9508241

RESUMO

Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demonstrated that FRA11B is the site of breakage in some cases of Jacobsen syndrome (JS) involving terminal deletions of chromosome 11q. We report on 2 patients with JS and a 46,XX,del(11)(q23.3) karyotype. In both cases, microsatellite and fluorescence in situ hybridization analyses indicated that the deletion breakpoint was approximately 1.5-3 Mb telomeric to FRA11B. There was no evidence of expansion of the CBL2 (CCG)n repeat in the parents of either patient. The deleted chromosome was of paternal origin in both cases, although it was of maternal origin in the cases reported to be caused by FRA11B. These findings and those in previously reported patients suggest that the breakpoint for most 11q deletions in JS patients is telomeric to FRA11B, which raises the possibility that there may be other fragile sites in 11q23.3 in addition to FRA11B. These findings also support previous evidence that there may be a propensity for breakpoints to differ depending on the parental origin of the deleted chromosome.


Assuntos
Anormalidades Múltiplas/genética , Fragilidade Cromossômica , Cromossomos Humanos Par 11 , Deleção de Sequência , Sítios Frágeis do Cromossomo , Exotropia/genética , Exotropia/patologia , Feminino , Impressão Genômica , Transtornos do Crescimento/genética , Transtornos do Crescimento/patologia , Humanos , Hiperopia/genética , Hiperopia/patologia , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Repetições de Microssatélites , Síndrome , Repetições de Trinucleotídeos
14.
Pediatr Dermatol ; 14(3): 196-8, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9192411

RESUMO

We report a boy with neurofibromatosis type 1 (NF-1) who had nonspecific respiratory symptoms and a mediastinal mass. In addition to multiple caté au lait macules and subcutaneous neurofibromas, he had a hair whorl over the spine at the level of a deep mediastinal mass demonstrated by CT scan and MR examination. Thoracoscopy and biopsy of the mass revealed a plexiform neurofibroma. The clinical sign of a hair whorl may assist the clinician in early recognition of a paraspinal plexiform neurofibroma.


Assuntos
Cabelo , Neoplasias do Mediastino/complicações , Neurofibromatose 1/complicações , Criança , Humanos , Masculino , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/patologia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia
15.
J Pediatr Hematol Oncol ; 19(3): 258-62, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9201152

RESUMO

PURPOSE: We report that patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome) are at risk for developing neoplasms, especially basal cell carcinomas and rarely medulloblastoma. METHODS: A case report is presented of a 5-year-old child with medulloblastoma and multiple basal cell carcinomas who was diagnosed with nevoid basal cell carcinoma syndrome. Genetic analyses were performed on tumor DNA from the patient's medulloblastoma and basal cell carcinoma as well as germline DNA from the patient and unaffected family members. RESULTS: After radiation therapy for medulloblastoma, the patient developed thousands of additional basal cell carcinomas. Analysis of tumor DNA revealed the characteristic defect of nevoid basal cell carcinoma syndrome, loss of heterozygosity at 9q22. Photodynamic therapy was successfully used to control the majority of her cutaneous tumors. CONCLUSION: DNA analysis confirmed the presence of the distinctive genetic lesion of nevoid basal cell carcinoma syndrome in both medulloblastoma and basal cell carcinoma. Omitting or limiting radiation therapy for children with nevoid basal cell carcinoma syndrome and medulloblastoma should be considered.


Assuntos
Síndrome do Nevo Basocelular , Neoplasias Cerebelares , Meduloblastoma , Neoplasias Primárias Múltiplas , Neoplasias Cutâneas , Alelos , Síndrome do Nevo Basocelular/tratamento farmacológico , Síndrome do Nevo Basocelular/genética , Biomarcadores Tumorais , Neoplasias Cerebelares/genética , Neoplasias Cerebelares/radioterapia , Pré-Escolar , DNA de Neoplasias/genética , Feminino , Humanos , Meduloblastoma/genética , Meduloblastoma/radioterapia , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/radioterapia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/genética
16.
J Med Genet ; 33(9): 772-8, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8880580

RESUMO

We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome. Endocrine evaluation showed growth hormone deficiency and central hypothyroidism. Chromosome analysis showed a 46,XX,del(11)(q23q25) de novo karyotype. Cytogenetically, the deletion appeared to include most of bands 11q23 and q24 and a portion of q25. Using chromosome specific paint probe, a combination of chromosome 11 centromere, telomere, and region specific cosmid probes from 11q14.1-14.3, 11q23.3, and 11q24.1, we have localised the deletion breakpoint to q24.1. Phenotype-karyotype correlation of patients with Jacobsen syndrome and specific deletions of chromosome 11q has enabled us to suggest that the critical region for this syndrome lies in close proximity to cytogenetic band 11q24. Although growth retardation is a consistent finding in 11q deletion syndrome, the presence of hypothalamic-pituitary hormone deficiency has not been reported previously.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 11 , Anormalidades do Olho/genética , Hormônio do Crescimento/deficiência , Hipotireoidismo/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Fenótipo , Síndrome
17.
Hum Genet ; 98(3): 291-6, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8707296

RESUMO

We report a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. She carries an unbalanced cell line with an i(21q) and a balanced cell line with a rob(21q22q). She is phenotypically normal but has two children who inherited the i(21q) and have Down syndrome. We demonstrate that both abnormal chromosomes are dicentric and that the proband's 21/21 rearrangement is an isochromosome formed from a maternally derived chromosome 21. We propose a model in which the i(21q) is the progenitor rearrangement in the proband, which subsequently participated in a nonreciprocal rearrangement characteristic of a jumping translocation. In addition, we review other cases of constitutional mosaicism involving jumping translocations.


Assuntos
Cromossomos Humanos Par 21 , Translocação Genética , Adulto , Criança , Cromossomos Humanos Par 22 , Síndrome de Down/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Mosaicismo , Linhagem
18.
J Med Genet ; 33(8): 704-6, 1996 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8863166

RESUMO

Gorlin syndrome is an autosomal dominant multisystem disorder characterised by multiple basal cell naevi, cysts of the jaw, pits of the palms and soles, skeletal anomalies, and various other defects. Patients with Gorlin syndrome have a predisposition to basal cell carcinomas and other neoplasms. This is the first report to describe the coexistence of Gorlin syndrome and a nasal dermoid cyst. A 4 year old girl was diagnosed with medulloblastoma and treated with surgery and radiation therapy. A genetic evaluation was sought because of the brain tumour, multiple small naevi localised mostly on the upper torso, and rib abnormalities. Biopsies of several naevi showed naevoid basal cell carcinoma. Past medical history was significant for a midline nasal punctum noted at birth. The significance of this finding was unrecognised until the dermoid cyst enlarged, just before the diagnosis of her brain tumour. A common tissue of origin exists between basal cell naevi, cysts of the jaw, and dermoid cysts. We propose that the association of these two rare conditions in one patient is not a chance occurrence.


Assuntos
Síndrome do Nevo Basocelular/complicações , Cisto Dermoide/complicações , Síndrome do Nevo Basocelular/genética , Neoplasias Cerebelares/complicações , Cisto Dermoide/genética , Feminino , Humanos , Recém-Nascido , Meduloblastoma/complicações , Costelas/anormalidades
19.
Am J Med Genet ; 62(4): 386-90, 1996 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-8723069

RESUMO

We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented' skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously.


Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Hipertricose/congênito , Retinose Pigmentar/congênito , Adulto , Feminino , Transtornos do Crescimento/genética , Humanos , Hipertricose/genética , Hipertricose/fisiopatologia , Lactente , Masculino , Retinose Pigmentar/genética , Retinose Pigmentar/fisiopatologia , Síndrome
20.
Clin Pediatr (Phila) ; 34(2): 73-8, 1995 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-7729110

RESUMO

Two infants presented with growth failure and were found to have generalized osteomalacia (rickets) due to phosphate depletion from prolonged administration of an aluminum-containing antacid given for the symptoms of colic. One of the infants developed bilateral proptosis due to craniosynostosis related to the underlying metabolic bone disease. The chronic use of aluminum-containing antacids in infants has potential risk for the growing skeleton and is not innocuous. Therefore, antacid therapy should be used in low doses and very cautiously, with routine monitoring of serum calcium and phosphorus in children taking medications which reduce gastrointestinal phosphate absorption.


Assuntos
Hidróxido de Alumínio/efeitos adversos , Antiácidos/efeitos adversos , Hidróxido de Magnésio/efeitos adversos , Fosfatos/deficiência , Raquitismo/induzido quimicamente , Simeticone/efeitos adversos , Cólica/tratamento farmacológico , Combinação de Medicamentos , Feminino , Humanos , Lactente , Absorção Intestinal/efeitos dos fármacos , Osteomalacia/induzido quimicamente , Osteomalacia/diagnóstico por imagem , Fosfatos/farmacocinética , Radiografia , Raquitismo/diagnóstico por imagem
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