共查询到20条相似文献,搜索用时 46 毫秒
1.
Trip J van Stuijvenberg M Dikkers FG Pijnenburg MW 《European journal of pediatrics》2002,161(2):78-80
A case with a predominantly unilateral CHARGE association is reported. The CHARGE association refers to a combination of congenital malformations. This boy had left-sided anomalies consisting of choanal atresia, coloboma and peripheral facial palsy. The infant had a frontal encephalocele, an anomaly not included in the definitions of CHARGE association. CONCLUSION: even when anomalies are predominantly unilateral, the CHARGE association should be considered in the differential diagnosis. 相似文献
2.
Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE
syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore,
we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained
by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry
and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings. 相似文献
3.
Chopra C Baretto R Duddridge M Browning MJ 《Acta paediatrica (Oslo, Norway : 1992)》2009,98(2):408-410
CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation.
Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency. 相似文献
Conclusion: Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency. 相似文献
4.
CHARGE association and DiGeorge syndrome (DGS) rarely occur together and only eight cases have been reported in the English
literature. Two were associated with esophageal atresia (EA) and severe congenital heart anomalies. We report a third case
of EA with tracheoesophageal fistula (EA-TEF) associated with coarctation of the aorta (CoA), CHARGE association, and DGS.
The challenge for management in this complicated case is the background DGS which influences surgical outcome because of Ca++
imbalance and immune deficiency that can be life-threatening and require bone marrow transplantation. 相似文献
5.
The VATER association. Analysis of 46 patients 总被引:7,自引:0,他引:7
Evaluation of 46 patients with the VATER association indicates that in addition to the major defects seen in this association, numerous other abnormalities occur at lesser frequency. Four of the defects that are not usually associated with the VATER association, namely, inguinal hernias, small intestinal malformations, choanal atresia, and cleft lip and/or palate, were seen at a relatively high frequency in this patient population. Two children possessed defects found in both the VATER and CHARGE associations. The spectrum of defects in the 46 patients in this study also is compared with that in 186 cases derived from the literature. 相似文献
6.
S Chittmittrapap L Spitz E M Kiely R J Brereton 《Archives of disease in childhood》1989,64(3):364-368
Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an associated tracheo-oesophageal fistula (3/13, 23%). The level of the associated anorectal malformation was not associated with the type of oesophageal atresia. The presence and severity of other anomalies did not influence the basic approach to treatment of the oesophageal atresia--that is, primary repair whenever possible. Despite aggressive treatment, cardiac malformations were the most common cause of death. There were five infants with the CHARGE association, two with Potter''s syndrome, and two with ''SCHISIS'' syndrome (cleft lip and palate, omphalocoele, and hypogenitalism). 相似文献
7.
Kosaki K 《Congenital anomalies》2011,51(1):12-15
In this review, our work on CHARGE syndrome will be used to exemplify the role of rare cases in birth defects research. The analysis of 29 cases with mutations of CHD7, the causative gene for CHARGE syndrome, clarified the relative importance of the cardinal features, including facial nerve palsy and facial asymmetry. Concurrently, in situ hybridization using chick embryos studies were performed to delineate the expression pattern of Chd7. The Chd7-positive regions in the chick embryos and the anatomical defects commonly seen in patients with CHARGE syndrome were well correlated: expression in the optic placode corresponded with defects such as coloboma, neural tube with mental retardation, and otic placode with ear abnormalities. The correlation between expression in the branchial arches and nasal placode with the clinical symptoms of CHARGE syndrome, however, became apparent when we encountered two unique CHARGE syndrome patients: one with a DiGeorge syndrome phenotype and the other with a Kallman syndrome phenotype. A unifying hypothesis that could explain both the DiGeorge syndrome phenotype and the Kallman syndrome phenotype in patients with CHARGE syndrome may be that the mutation in CHD7 is likely to exert its effect in the common branch of the two pathways of neural crest cells. As exemplified in CHARGE syndrome research, rare cases play a critical role in deciphering the mechanisms of human development. Close collaboration among animal researchers, epidemiologists and clinicians hopefully will enhance and maximize the scientific value of rare cases. 相似文献
8.
Francesca Ormitti Elisa Ventura Andrea Bacciu Girolamo Crisi Cinzia Magnani 《Pediatric radiology》2013,43(2):247-251
Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI. 相似文献
9.
Eiso Hiyama Takashi Yokoyama Toru Ichikawa Katsunari Miyamoto Yuichiro Matsuura 《Pediatric surgery international》1990,5(6):463-465
The CHARGE association, choanal arresia or coloboma with multiple anomalies, is rare. A newborn boy with CHARGE association was referred to our hospital because of bilateral choanal atresia. Additionally, he had left renal aplasia, one of the anomalies associated with this syndrome. A right suprarenal neuroblastoma (stage IV) was diagnosed when the patient was 5 months old. At operation, great care was taken not to injure the right kidney, and resection of the primary tumor as well as radical dissection of the right renal hilar and para-aortic lymph nodes were performed without difficulty. The patient received postoperative chemotherapy with vincristine, cyclophosphamide, and adriamycin for 2 years and is alive without recurrence 5 years after the operation. No report of the CHARGE association with a malignancy has appeared in the literature. The relationship between the CHARGE association and malignant tumors is still obscure, so that further study is necessary to define it. 相似文献
10.
Hyper-IgM syndrome with CHARGE association 总被引:1,自引:0,他引:1
Pilar Bahillo Teresa Cantero Pilar Solís Paz Aragón Samuel Gómez Rosario Cambronero 《Pediatric allergy and immunology》2003,14(6):487-489
A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia ( Streptococcus pneumoniae , Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome . Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely. 相似文献
11.
Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases 总被引:1,自引:0,他引:1
Tilea B Garel C Menez F Vuillard E Elmaleh-Bergès M Delezoide AL Sebag G 《Pediatric radiology》2006,36(2):149-154
We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and
30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly
and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular
canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies
were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears
should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with
cerebral anomalies. 相似文献
12.
A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs. 相似文献
13.
We have previously described iatrogenic Cushing's syndrome secondary to intranasal steroids. This report further highlights the potential deleterious effects of intranasal steroids. Nine cases (including the original two cases) are reviewed to show the varied clinical manifestations of adrenal suppression caused by intranasal steroids. Four presented with Cushing's syndrome, three with growth failure, while two asymptomatic patients were discovered in the course of pituitary function testing. Four children had dysmorphic syndromes--Down's, Treacher-Collins, CHARGE association, and campomelic dysplasia--reflecting the vulnerability of such children to ENT problems, together with the difficulty of interpreting steroid induced growth failure in this context. Adrenal suppression was seen not only with betamethasone but also with budesonide, beclomethasone and flunisolide nasal preparations. A careful enquiry as to the use of intranasal steroids should be routine in children presenting with unexplained growth failure or Cushing's syndrome. Particular vigilance/awareness is required in children with dysmorphic syndromes. 相似文献
14.
Cushing's syndrome, growth impairment, and occult adrenal suppression associated with intranasal steroids. 总被引:3,自引:0,他引:3
We have previously described iatrogenic Cushing's syndrome secondary to intranasal steroids. This report further highlights the potential deleterious effects of intranasal steroids. Nine cases (including the original two cases) are reviewed to show the varied clinical manifestations of adrenal suppression caused by intranasal steroids. Four presented with Cushing's syndrome, three with growth failure, while two asymptomatic patients were discovered in the course of pituitary function testing. Four children had dysmorphic syndromes--Down's, Treacher-Collins, CHARGE association, and campomelic dysplasia--reflecting the vulnerability of such children to ENT problems, together with the difficulty of interpreting steroid induced growth failure in this context. Adrenal suppression was seen not only with betamethasone but also with budesonide, beclomethasone and flunisolide nasal preparations. A careful enquiry as to the use of intranasal steroids should be routine in children presenting with unexplained growth failure or Cushing's syndrome. Particular vigilance/awareness is required in children with dysmorphic syndromes. 相似文献
15.
CHARGE syndrome is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness. The CHD7 gene on chromosome 8q12.1 was recently shown to be a major gene involved in the etiology of this syndrome. We describe a girl with CHARGE syndrome who had a novel mutation of CHD7 associated with agenesis of the left internal carotid artery. She had presented with recurrent episodes of photophobia and vomiting since the age of 6 years. Since her symptoms were well controlled by cyproheptadine, migraine-like attacks were considered. CHD7 molecular confirmation in this patient provides further evidence to support the occurrence of a vascular anomaly suggested from animal models of CHARGE syndrome with molecular delineation. We report this case to emphasize the importance of neurologic signs of photophobia and to highlight the broad clinical variability in this pleiotropic disorder. 相似文献
16.
The association of large facial hemangiomas with posterior fossa malformations and vascular anomalies has been termed the PHACE syndrome. It is characterized by the association of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities. Since most articles focus on isolated case reports, an extended retrospective literature review of all reports of large hemangiomas with associated abnormalities of the central nervous system and other malformations was performed to examine the clinical features, and other not as yet reported associated anomalies. Reports were found on 59 patients with PHACE syndrome, to which we added ten cases of our own. The Dandy-Walker syndrome is the most common CNS abnormality reported in association with PHACE syndrome and was seen in 48 (81 %) patients. Arterial malformations were found in 13 (22 %) cases; only 11 patients (19 %) had structural arterial abnormalities without associated Dandy-Walker complex. As published, about one third of patients (31 %) had further ophthalmologic abnormalities, and cardiac anomalies, including coarctation of the aorta. Subglottic hemangiomas were seen in 4 (7 %) patients and ventral developmental defects also in 3 cases. In seven of 59 patients (12 %) with PHACE syndrome, intracranial hemangiomas were present. This study demonstrates that among other CNS abnormalities, special attention should be given to intracranial hemangiomas which seems to be a peculiar phenotype of PHACE syndrome. We therefore suggest that a sixth criterion should be added to the five minimal inclusion criteria for PHACE syndrome. The inclusion criteria would then be: arterial abnormalities or/and intracranial hemangiomas. On the basis of our experience with our patients and with those previously reported, we stress the importance of using contrast-enhanced imaging to detect intracranial lesions. 相似文献
17.
Balci S Engiz O Alikasifoglu M Esinler I Sinan Beksac M 《Indian journal of pediatrics》2008,75(6):638-640
Recently many reports have been published on the use of intracytoplasmic sperm injection (ICSI) and the increased risk of
congenital major malformations or syndromes. We present three cases with Goldenhar syndrome (one of them a twin pair) and
one case with Rubinstein-Taybi syndrome (RTS), also a twin pair. All four female cases are derived from ICSI. Goldenhar syndrome
with ICSI pregnancy has been reported previously but as far as we know, RTS has not been described in association with assisted
reproductive technology (ART). The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy
increases congenital malformations. 相似文献
18.
BACKGROUND: In contrast with other malformations, congenital anomalies of the gastrointestinal tract have been scarcely investigated. METHODS: The prevalence of gastrointestinal malformations with special reference to associated disorders and intrauterine growth was retrospectively analyzed in the newborn infants admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics, University of Pécs, Hungary, in the 14-year period between 1987 and 2000. RESULTS: Of 4,241 neonates with gastrointestinal malformations, 241 (5.68%) had a total of 304 malformations (excluding Hirschsprung disease). In 133 patients, the gastrointestinal anomalies were observed as one of multiple malformations; a specific syndrome or association was diagnosed in 36 cases. Skeletal disorders were the most frequently associated anomalies. Intrauterine growth retardation was found in a large number of patients with both isolated and multiple gastrointestinal malformations (38.9% and 30.8%, respectively). CONCLUSIONS: Gastrointestinal malformations often are complicated by skeletal anomalies and intrauterine growth retardation. The association among these disorders requires further investigation. However, from a practical point of view, this association should be considered in treating affected patients. 相似文献
19.
A male infant diagnosed with CHARGE association presented with respiratory insufficiency and a cardiac murmur. Diagnostic evaluation showed a right sided aortic arch with an isolation of the left subclavian artery arising from the pulmonary artery through a left patent arterial duct. This is a rare cardiac disorder not previously described in patients with CHARGE association, detected with a 3D computed tomography scan, which emphasizes the importance of a thorough cardiac screening in patients with CHARGE association. 相似文献
20.
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development
Abadie V Wiener-Vacher S Morisseau-Durand MP Porée C Amiel J Amanou L Peigné C Lyonnet S Manac'h Y 《European journal of pediatrics》2000,159(8):569-574
Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear
(CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order
to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients
including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated
with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant
feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were
frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were
considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal
but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern
of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have
a positive influence for postural development.
Conclusion Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation
programmes in CHARGE syndrome patients.
Received: 26 August 1999 / Accepted: 5 January 2000 相似文献