RESUMO
OBJECTIVES: To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion syndrome and determine whether there was significant change over time. METHODS: This study characterized the laboratory and clinical features of the immunodeficiency in a cohort of 195 patients with chromosome 22q11.2 deletion syndrome and used cross-sectional and analysis of variance to compare the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patients who were studied serially. RESULTS: Diminished T cell counts in the peripheral blood are common in patients with chromosome 22q11.2 deletion syndrome. The pattern of changes seen with aging in normal control patients was also seen in patients with chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, though they were seldom life threatening. CONCLUSIONS: Slow declines in T cell populations are seen in chromosome 22q11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/imunologia , Formação de Anticorpos , Doenças Autoimunes/epidemiologia , Criança , Pré-Escolar , Modificador do Efeito Epidemiológico , Feminino , Humanos , Lactente , Recém-Nascido , Contagem de Linfócitos , Masculino , Subpopulações de Linfócitos T , Linfócitos TRESUMO
OBJECTIVES: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified barium swallow (MBS). STUDY DESIGN: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, including an MBS for those children for whom there was concern about airway penetration. RESULTS: A consistent pattern of feeding difficulty, independent of palatal or cardiac involvement, emerged from the evaluations. This group typically has trouble coordinating the suck/swallow/breath pattern, resulting in slow nipple feedings interrupted by gagging or regurgitation. Recurrent vomiting and constipation are common. With advancement to chewable table foods, gagging or refusal develops, related to an immature oral transport pattern. The MBS studies demonstrate pharyngeal hypercontractility, cricopharyngeal prominence, and/or diverticula. CONCLUSIONS: Because of the consistency of dysphagic symptoms and MBS findings, we propose that dysmotility, especially through the pharyngoesophageal segment, is central to the dysphagia affecting this group. Dysphagia related to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and investigation with MBS and gastrointestinal studies as warranted are recommended for all patients with a 22q11.2 deletion and feeding problems.
Assuntos
Anormalidades Múltiplas , Deleção Cromossômica , Cromossomos Humanos Par 22 , Transtornos de Deglutição/fisiopatologia , Síndrome de DiGeorge/complicações , Anormalidades Múltiplas/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Deglutição , Transtornos de Deglutição/diagnóstico por imagem , Transtornos de Deglutição/etiologia , Esôfago/anormalidades , Esôfago/diagnóstico por imagem , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Faringe/anormalidades , Faringe/diagnóstico por imagem , Radiografia , SíndromeRESUMO
OBJECTIVES: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). STUDY DESIGN: Thirty-three patients (aged 6 to 27 years) with a 22q11.2 microdeletion underwent psychoeducational testing as part of a comprehensive evaluation. Nonparametric statistics were used to compare verbal and performance IQ, academic achievement scores, and receptive versus expressive language scores. Post hoc comparisons were made of IQ subtest scores and of language versus verbal IQ. RESULTS: Full-scale IQ ranged from the normal to the moderately retarded range. Mean verbal IQ was significantly higher than mean performance IQ. In a similar manner, mean reading and spelling scores were superior to the mean mathematics score, although achievement scores typically were in the range of verbal IQ. In addition, many children showed clinically significant language impairments, with mean language scores lower than mean verbal IQ. CONCLUSIONS: The IQ and academic profiles are reminiscent of a "nonverbal learning disability," although achievement was not discrepant from IQ. The coincidence of language impairment with a relative strength in reading belies a unique neuropsychologic profile. Educational programming for these children must address both verbal and nonverbal deficits.
Assuntos
Cromossomos Humanos Par 22/genética , Deficiências do Desenvolvimento/genética , Inteligência , Adolescente , Adulto , Criança , Deleção Cromossômica , Avaliação Educacional , Feminino , Humanos , Testes de Inteligência , Idioma , Masculino , Testes Neuropsicológicos , Estatísticas não Paramétricas , SíndromeRESUMO
To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.
Assuntos
Craniossinostoses/genética , Fatores de Crescimento de Fibroblastos/genética , Mutação , Proteínas Tirosina Quinases , Receptores de Fatores de Crescimento de Fibroblastos/genética , Feminino , Genes Dominantes , Humanos , Masculino , Receptor Tipo 3 de Fator de Crescimento de FibroblastosRESUMO
OBJECTIVES: To estimate the rate of progression of plexiform neurofibroma after surgery and to identify prognostic factors that predict progression. STUDY DESIGN: A retrospective review of the inpatient and outpatient records of 121 patients, who had 302 procedures on 168 tumors over a 20-year period at a single large pediatric referral center. Data on age, location, indication for surgery, and extent of resection was analyzed for prognostic significance. RESULTS: The overall freedom from progression was 54%. Children < 10 years old had a shorter interval of tumor control than older children (p = 0.0004). Tumors of the head/neck/face fared worse than tumors of the extremities (p = 0.0003). Less extensive resection predicted shorter interval to progression (p < 0.0001). Indication for surgery was not of prognostic importance. In multivariable analysis older age and location in the extremities were predictors of a better outcome. CONCLUSIONS: Tumor progression is a serious problem for children with plexiform neurofibroma. Younger children, children with tumors of the head/neck/face, and tumors that cannot be nearly completely removed are at particular risk. These data may be useful in helping clinicians decide which patients and which tumors are most likely to benefit from surgical intervention.
Assuntos
Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias/cirurgia , Neurofibroma Plexiforme/cirurgia , Neurofibromatose 1/cirurgia , Neoplasias do Sistema Nervoso Periférico/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Neoplasias de Cabeça e Pescoço/epidemiologia , Hospitais Pediátricos , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Neoplasias/epidemiologia , Neurofibroma Plexiforme/epidemiologia , Neurofibromatose 1/epidemiologia , Pennsylvania , Neoplasias do Sistema Nervoso Periférico/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Prognóstico , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/epidemiologia , Fatores de TempoRESUMO
We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, syndactyly, and facial milia. The infant's features were consistent with three other kindreds, suggesting that this entity is a single disorder with variable expression. Furthermore, this entity should be considered in the differential diagnosis of excessive congenital facial milia and erosions.
Assuntos
Cisto Epidérmico/congênito , Cisto Epidérmico/genética , Dermatoses Faciais/congênito , Dermatoses Faciais/genética , Anormalidades da Pele , Sindactilia/genética , Adulto , Feminino , Dermatoses do Pé/congênito , Dermatoses do Pé/genética , Dermatoses da Mão/congênito , Dermatoses da Mão/genética , Humanos , Recém-Nascido , Masculino , Doenças da Unha/congênito , Doenças da Unha/genética , LinhagemRESUMO
Misalignment of pulmonary veins with alveolar capillary dysplasia is recognized as a rare cause of persistent pulmonary hypertension of the neonate. Until now, misalignment of pulmonary veins was thought to be a random occurrence, but its appearance in siblings at our institution suggests that there may be a familial predisposition. There have been reports of variable expression and variable severity in this disease; our report describes this variability in family members.
Assuntos
Anormalidades Múltiplas/genética , Síndrome da Persistência do Padrão de Circulação Fetal/etiologia , Alvéolos Pulmonares/irrigação sanguínea , Veias Pulmonares/anormalidades , Anormalidades Múltiplas/patologia , Capilares/anormalidades , Feminino , Humanos , Lactente , Recém-Nascido , Pulmão/irrigação sanguínea , Pulmão/patologia , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Fenótipo , Alvéolos Pulmonares/patologiaRESUMO
Ankyloblepharon filiforme adnatum (AFA) is a mild form of ankyloblepharon, in which there is partial thickness fusion of the central portion of the lid margins, sparing the canthi. Although it can be seen as an isolated sporadic congenital defect, it is important for pediatric ophthalmologists to be cognizant of its possible association with a number of anomalies. One infrequent, but nevertheless important association, is with trisomy 18. We present three cases of AFA in association with trisomy 18, and emphasize the need for clinicians to search for other abnormalities in a newborn presenting with AFA.
Assuntos
Cromossomos Humanos Par 18 , Pálpebras/anormalidades , Trissomia , Adulto , Pálpebras/patologia , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Hérnias Diafragmáticas Congênitas , Mosaicismo , Feminino , Hérnia Diafragmática/genética , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Cariotipagem , MasculinoRESUMO
Stickler's syndrome is a much underdiagnosed entity in the ophthalmic population. It is a dominantly inherited disease of connective tissue whose ocular findings include moderate to severe myopia, vitreoretinal degeneration, retinal detachments, cataracts, and glaucoma. Non-ophthalmologic findings include cleft palate, midfacial hypoplasia, radiographic changes of spondyloepiphyseal dysplasia, narrow pelvis, and broad femoral neck. Twenty percent of patients with Stickler's syndrome will have a cleft palate. We undertook a study to determine the incidence of Stickler's syndrome in patients with an isolated cleft palate, and to see if this screening process would be useful in making an early diagnosis of the syndrome and in genetic counseling. It is important to distinguish this syndrome from that of isolated cleft palate in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, cataract, and glaucoma; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).