Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
Eur Rev Med Pharmacol Sci ; 26(5): 1579-1585, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35302203

RESUMO

OBJECTIVE: Bronchopulmonary dysplasia (BPD) is a common and serious complication in preterm infants with very low birth weight and is known to lead to poor neurodevelopmental outcomes. This study aimed to identify factors associated with neurodevelopmental impairment (NDI) in patients with moderate to severe BPD. SUBJECTS AND METHODS: A total of 83 preterm infants born between 24- and 29-weeks' gestation who were admitted to the neonatal intensive care unit and developed moderate/severe BPD between 2013 and 2017 were retrospectively evaluated. Developmental assessment was performed at 18 to 24 months of corrected age using the Bayley Scales of Infant Development II (BSID-II). Patients with NDI (n=41) and without NDI (n=42) were compared. RESULTS: BSID-II Mental Development Index and Psychomotor Development Index scores were 87±11 and 83±8 in the non-NDI group and 57±12 and 52±8 in the NDI group, respectively (p<0.001). The NDI group had significantly lower birth weight (847±174 vs. 1012±192 g) and gestational age (26.1±1.3 and 27.6±1.6 weeks) compared to the non-NDI group (p<0.001). Intraventricular hemorrhage, periventricular leukomalacia, retinopathy of prematurity, exposure to steroids, duration of respiratory support, and length of hospital stay were significantly higher in the NDI group (p<0.001). CONCLUSIONS: Many of the conditions in this study were found to be associated with poor neurodevelopmental outcomes in patients with BPD, such as prolonged respiratory support, prolonged hospitalization, intraventricular hemorrhage, retinopathy, and steroid therapy, can be avoided or prevented with strict protocols and prevention strategies. Appropriate management of comorbid risk factors may help prevent poor neurodevelopmental outcomes.


Assuntos
Displasia Broncopulmonar , Displasia Broncopulmonar/epidemiologia , Criança , Idade Gestacional , Hemorragia , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Estudos Retrospectivos
2.
Clin Exp Dermatol ; 47(1): 63-71, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34236713

RESUMO

BACKGROUND: Palmoplantar pustulosis (PPP) is a rare, chronic, inflammatory skin disease characterized by sterile pustules on palmar or plantar areas. Data on PPP are scarce. AIM: To investigate the clinical characteristics and risk factors for disease severity in a large cohort of Turkish patients with PPP. METHODS: We conducted a cross-sectional, multicentre study of patients with PPP recruited from 21 tertiary centres across Turkey. RESULTS: In total, 263 patients (165 women, 98 men) were evaluated. Most patients (75.6%) were former or current smokers. The mean Palmoplantar Pustulosis Area and Severity Index (PPPASI) was 8.70 ± 8.06 and the mean Dermatology Life Quality Index (DLQI) score was 6.87 ± 6.08, and these scores were significantly correlated (r = 0.52, P < 0.001). Regression analysis showed that current smoking was significantly associated with increased PPPASI (P = 0.03). Coexisting psoriasis vulgaris (PsV) was reported by 70 (26.6%) patients. Male sex prevalence, PPP onset incidence, disease duration, DLQI, and prevalence of nail involvement and psoriatic arthritis (PsA) were significantly increased among patients with PPP with PsV. Of the 263 patients, 18 (6.8%) had paradoxical PPP induced by biologic therapy, and these patients had significantly increased mean DLQI and prevalence of PsA (r = 0.03, P = 0.001). CONCLUSION: Our data suggest that smoking is a risk factor for both PPP development and disease severity. Patients with PPP with PsV present distinct clinical features and patients with biologic therapy-induced paradoxical PPP have reduced quality of life and are more likely to have PsA.


Assuntos
Dermatoses do Pé/diagnóstico , Dermatoses do Pé/epidemiologia , Dermatoses da Mão/diagnóstico , Dermatoses da Mão/epidemiologia , Psoríase/diagnóstico , Psoríase/epidemiologia , Qualidade de Vida , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença , Turquia/epidemiologia
3.
J Neonatal Perinatal Med ; 15(1): 123-128, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33935110

RESUMO

BACKGROUND: Low values of pregnancy associated plasma protein A (PAPP-A), have been shown to be associated with some poor gestational outcomes, especially those related to placental deficiency such as pre-eclampsia and fetal growth restriction as well as preterm labor. The aim of this study was to compare first trimester PAPP-A MoM values with the surfactant needs of newborns of pregnant women who had a preterm delivery. METHODS: This study included 216 pregnant women who had a preterm delivery, who were found to be in the low-risk group based on their aneuploidy screening. The women were separated into two groups based on the surfactant receipts of their newborns. A record was made of the obstetric history, birth characteristics of the preterm infants, and whether or not there was a need for surfactant. RESULTS: A comparison of the PAPP-A values of the two groups revealed that the group that received surfactant had statistically significantly lower PAPP-A values (t(-3.97) = 0.203, p < 0.001). When the cut-off value of PAPP-A was taken as 1 MoM and the gestational age was analyzed together with the birth weight, PAPP-A alone was found to be a significant independent variable for the prediction of respiratory distress syndrome (RDS) (p = 0.031; OR:8.2 (1.2-55.6)). CONCLUSIONS: The result of this study demonstrated that PAPP-A MoM values may be significant in predicting the need for surfactant in RDS, which is a frequently seen condition in the neonatal period.


Assuntos
Proteína Plasmática A Associada à Gravidez , Tensoativos , Biomarcadores , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Placenta , Gravidez , Primeiro Trimestre da Gravidez
4.
J Matern Fetal Neonatal Med ; 33(24): 4139-4144, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30890001

RESUMO

Background: Several retrospective studies have reported an increase in necrotizing enterocolitis (NEC) during the 48 h following red blood cell (RBC) transfusion. Whether withholding enteral feeding during transfusion decreases the risk of transfusion-associated acute gut injury (TRAGI) in preterm infants is unclear.Study design and methods: In this pilot study, 112 preterm infants with gestational age ≤32 weeks and/or birth weight ≤1500 g were randomly assigned to withholding (NPO) or continuance of feeding (FED) during RBC transfusion. Primary outcome measure was development of NEC (stage ≥ 2) within 72 h of a transfusion and the change in abdominal circumference.Results: One hundred fifty-four transfusion episodes (74 NPO and 80 FED) were analyzed. Demographic characteristics were found to be similar in both groups. There was no difference in rates of NEC (0 versus 3.4%; p = .49) between the NPO and FED groups. The incidence of feeding intolerance was higher in the FED group; however, it was statistically insignificant (1.9 versus 6.8%, p = .36). Abdominal circumference remained similar in both groups in all three consecutive days following transfusion (p>.05).Conclusion: This pilot study does not support withholding feedings during transfusion but is not adequately powered to test the hypothesis that NPO decreases NEC rates. Adequately powered well-designed multicenter trials are still required.


Assuntos
Enterocolite Necrosante , Microbioma Gastrointestinal , Fenômenos Fisiológicos da Nutrição do Lactente , Enterocolite Necrosante/epidemiologia , Enterocolite Necrosante/etiologia , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Projetos Piloto , Estudos Retrospectivos
5.
Clin Invest Med ; 41(3): E130-E135, 2018 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-30315748

RESUMO

PURPOSE: To compare complete blood count (CBC) parameters in extremely low birth weight (ELBW) infants born to mothers with and without preeclampsia and to evaluate whether these parameters could be used to determine the prognosis of infants born to mothers with preeclampsia. METHOD: Thirty-eight infants of preeclamptic mothers (IPM) and 77 infants of non-preeclamptic mothers (INPM) were included in the study. The CBC parameters of ELBW infants were evaluated at the sixth hour of life. RESULTS: The mean hemoglobin level of the IPM group was higher than the INPM group (16.4±2.4 vs 15.3±2.4; p=0.02). The mean platelet count of the IPM Group was significantly lower than the INPM group (168±65 vs 206±78; p=0.008). Overall and 7th day of life survival of infants were not different between the groups, but there was a correlation between platelet count of the IPM group and mortality in the first 7 days of life and overall mortality (r=-0.38, p=0.023 and r=-0.36, p=0.029). A cut-off point of 0.4 had significant predictive value for mortality (sensitivity of 91%, specificity of 66%). CONCLUSION: Hemoglobin and platelet counts were statistically different in ELBW infants born to preeclamptic mothers compared with non-preeclamptic mothers. Although the survival was not different between the two groups, platelet count and MPV/platelet count ratio were significantly correlated with overall mortality and mortality in the first 7 days of life in infants of preeclamptic mothers.


Assuntos
Volume Plaquetário Médio , Contagem de Plaquetas , Feminino , Hemoglobinas/metabolismo , Humanos , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Recém-Nascido , Masculino , Relações Materno-Fetais , Pré-Eclâmpsia , Gravidez
7.
Clin Exp Obstet Gynecol ; 42(4): 485-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26411216

RESUMO

PURPOSE: To evaluate and compare the morbidity and mortality of neonates born to pregnant women with positive and negative cervical cultures. MATERIALS AND METHODS: The demographic and clinical features of mothers included in this study, along with details of the microorganisms isolated on maternal cervical cultures and the number of days between a positive cervical culture and delivery were recorded. Neonates were stratified into two groups based on cervical culture results of their mothers--Group 1, positive cervical culture; Group 2, negative cervical culture. RESULTS: A total of 216 women who delivered 242 infants were included in the study. Group 1 consisted of 90 neonates while Group 2 had 152 newborns. The difference between the groups with demographic characteristics was statistically insignificant. Mean levels of the acute phase reactants, CRP, and IL-6, obtained six hours after delivery were significantly higher in Group 1 compared to Group 2 (p < 0.05 for C-reactive protein (CRP) andp < 0.001 for IL-6). Although there was no difference between groups in terms of duration of respiratory support, mean duration of hospitalization, as well as mortality rate were significantly higher in Group 1 (p < 0.001, p < 0.05, respectively). CONCLUSIONS: Women diagnosed with a high-risk pregnancy should be treated with antibiotics immediately after a positive cervical culture result, and delivery should be delayed until the success of antibiotic treatment can be evaluated. Early initiation of maternal antibiotic therapy is associated with shorter durations of hospital stay for newborns. Close follow-up of mothers with high-risk pregnancies and extension of treatment duration are critical for determining prognosis in newborn infants.


Assuntos
Colo do Útero/microbiologia , Doenças do Prematuro/epidemiologia , Adulto , Antibacterianos/administração & dosagem , Corioamnionite/tratamento farmacológico , Corioamnionite/epidemiologia , Corioamnionite/microbiologia , Infecções por Escherichia coli/tratamento farmacológico , Infecções por Escherichia coli/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/mortalidade , Masculino , Gravidez , Resultado da Gravidez , Gravidez de Alto Risco , Estudos Retrospectivos , Turquia/epidemiologia
9.
J Matern Fetal Neonatal Med ; 27(12): 1248-51, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24093509

RESUMO

BACKGROUND: Spontaneous intestinal perforation (SIP) is an important surgical emergency in preterm infants. AIMS: To evaluate the effect of maternal preeclampsia on development of SIP in premature infants. STUDY DESIGN: Retrospective observational study in a large tertiary neonatal intensive care unit. SUBJECTS: The preterm infants of ≤32 weeks of gestational age and birthweight ≤1500 g who were hospitalized were enrolled. OUTCOME MEASURES: The primary outcome was to determine the association between preeclampsia and SIP. RESULTS: A total of 22 infants had SIP diagnosis. The incidence of SIP in infants born to preeclamptic mothers (6.2%) was significantly higher compared with those born to normotensive mothers (0.2%). In multinominal logistic regression model, preeclampsia was found to be an independent risk factor of SIP with an odds ratio of 13.5 (95% confidence interval 2.82-65.1). CONCLUSIONS: Maternal preeclampsia seemed to be an independent risk factor for development of SIP in premature infants.


Assuntos
Doenças do Prematuro/etiologia , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Perfuração Intestinal/etiologia , Pré-Eclâmpsia/epidemiologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/epidemiologia , Perfuração Intestinal/epidemiologia , Masculino , Gravidez , Estudos Retrospectivos , Fatores de Risco , Ruptura Espontânea/epidemiologia , Ruptura Espontânea/etiologia
10.
Genet Couns ; 25(4): 395-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25804017

RESUMO

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.


Assuntos
Anormalidades Múltiplas/patologia , Anoftalmia/patologia , Ceco/anormalidades , Anormalidades Múltiplas/diagnóstico , Anoftalmia/diagnóstico , Ceco/cirurgia , Feminino , Humanos , Recém-Nascido
13.
Lupus ; 22(5): 515-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23554040

RESUMO

Anti-tumor necrosis factor-alpha (TNF-α) immunotherapy is currently used in the treatment of various inflammatory diseases such as rheumatoid arthritis, psoriasis, psoriatic arthritis, ankylosing spondylitis and Crohn's disease. Infliximab is a chimeric monoclonal antibody that binds to transmembrane-bound and soluble TNF-α. Previously, a discoid lupus erythematosus-like eruption linked to its use was rarely reported in patients with rheumatoid arthritis. We present a case of rheumatoid arthritis which developed such an eruption after treatment with infliximab. The lesions resolved after the discontinuation of infliximab. In the present case, the clinical, serological and immunohistochemical features of our patient are discussed with the literature.


Assuntos
Anticorpos Monoclonais/efeitos adversos , Antirreumáticos/efeitos adversos , Artrite Reumatoide/tratamento farmacológico , Lúpus Eritematoso Discoide/induzido quimicamente , Adulto , Humanos , Infliximab , Masculino , Fator de Necrose Tumoral alfa/antagonistas & inibidores
14.
Eur Rev Med Pharmacol Sci ; 17(4): 501-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23467949

RESUMO

AIM: The aim of this study was to assess adiponectin, visfatin, HOMA-IR, glucose and triglyceride levels in term, preterm and extremely low birth weight (ELBW) babies. Each of these three groups was subdivided into two groups as small-for-gestational age (SGA), and appropriate-for-gestational age (AGA). 30 term, 30 preterm and 30 extremely low birth weight infants were included into the study. RESULTS: There was no significant difference in term and preterm infants for serum adiponectin, visfatin, and HOMA-IR levels. There were also no significant differences between term and preterm infants for glucose and triglycerides. The serum visfatin, insulin and HOMA-IR levels (p = 0.001, p = 0.001 and p < 0.05, respectively) were higher in ELBW group than preterm group. Comparing the subgroups as SGA and AGA in all main groups, only in ELBW group there were no significant differences in serum adiponectin, visfatin, HOMA-IR and insulin levels. CONCLUSIONS: We suggest that visfatin can be used as an early indicator of insulin resistance. Independent of being SGA, ELBW itself may be a risk factor for insulin resistance. In the follow-up of these babies the risk of obesity, metabolic syndrome and cardiovascular diseases may be increased as in SGA babies.  


Assuntos
Adiponectina/sangue , Citocinas/sangue , Recém-Nascido de Peso Extremamente Baixo ao Nascer/sangue , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Resistência à Insulina , Nicotinamida Fosforribosiltransferase/sangue , Biomarcadores/sangue , Glicemia/análise , Estudos de Casos e Controles , Idade Gestacional , Humanos , Recém-Nascido , Insulina/sangue , Risco , Triglicerídeos/sangue
15.
Eur Rev Med Pharmacol Sci ; 17(1): 134-7, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23329535

RESUMO

BACKGROUND: Mean platelet volume [MPV] is an important predictor for many diseases and larger platelets are more reactive and associated with shortened bleeding time. Although elevated MPV values are related to respiratory distress syndrome [RDS] in neonates, there are, to our knowledge, no data investigating the relationship between MPV and other diseases of preterm infants. AIM: To assess the correlation between MPV and the occurrence of various morbidities of prematurity such as necrotizing enterocolitis [NEC], bronchopulmonary dysplasia [BPD], sepsis, retinopathy of prematurity [ROP], and intraventricular hemorrhage [IVH] in a cohort of very preterm infants. SUBJECTS: We studied infants with a gestational age of < 34 weeks and a birth weight of < 1500 g admitted to a third level Neonatal Intensive Care Unit. Enrolled infants were divided into NEC and non-NEC, sepsis and non-sepsis, ROP and non-ROP, BPD and non-BPD and IVH and non-IVH groups. MPV was evaluated at birth [cord blood] and repeated at 48-72 hours of life. RESULTS: Two hundred and seventy two infants were studied. MPV measured at birth was similar between sepsis and non-sepsis, and ROP and non-ROP groups. MPV values were higher in infants with BPD [9.08±1.3 fl], IVH [8.4±1.1fl] and NEC [8.6±0.7 f] when compared to the control group [7.6±0.6 fl] in the first day of life. CONCLUSIONS: High MPV in the first hours of life may reflect the presence of a risk factor for the development of NEC, BPD and IVH in extremely preterm infants. This might be associated with inflammatory and oxidative process. However, our data indicate that higher MPV values are not associated with the development of sepsis or ROP in this study population.        


Assuntos
Plaquetas/citologia , Recém-Nascido Prematuro/sangue , Displasia Broncopulmonar/sangue , Enterocolite Necrosante/sangue , Feminino , Humanos , Recém-Nascido , Masculino , Morbidade , Retinopatia da Prematuridade/sangue
16.
Pediatrics ; 131(2): e502-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23359581

RESUMO

BACKGROUND: The primary aim of this randomized study was to describe the feasibility of early administration of surfactant via a thin catheter during spontaneous breathing (Take Care) and compare early mechanical ventilation (MV) requirement with the InSurE (Intubate, Surfactant, Extubate) procedure. METHODS: Preterm infants, who were <32 weeks and stabilized with nasal continuous positive airway pressure (nCPAP) in the delivery room, were randomized to receive early surfactant treatment either by the Take Care or InSurE technique. Tracheal instillation of 100 mg/kg poractant α via 5-F catheter during spontaneous breathing under nCPAP was performed in the intervention group. In the InSurE procedure, infants were intubated, received positive pressure ventilation for 30 seconds after surfactant instillation, and placed on nCPAP immediately. RESULTS: One hundred infants in each group were analyzed. The MV requirement in the first 72 hours of life was significantly lower in the Take Care group when compared with the InSurE group (30% vs 45%, P = .02, odds ratio -0.52, 95% confidence interval -0.94 to -0.29). Mean duration of both nCPAP and MV were significantly shorter in the Take Care group (P values .006 and .002, respectively). Bronchopulmonary dysplasia rate was significantly lower among the infants treated with the Take Care technique (relative risk -0.27, 95% confidence interval -0.1 to -0.72) CONCLUSIONS: The Take Care technique is feasible for the treatment of respiratory distress syndrome in infants with very low birth weight. It significantly reduces both the need and duration of MV, and thus the bronchopulmonary dysplasia rate in preterm infants.


Assuntos
Produtos Biológicos/administração & dosagem , Cateterismo Periférico/instrumentação , Pressão Positiva Contínua nas Vias Aéreas , Recém-Nascido de muito Baixo Peso , Fosfolipídeos/administração & dosagem , Surfactantes Pulmonares/administração & dosagem , Respiração/efeitos dos fármacos , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico , Displasia Broncopulmonar/prevenção & controle , Estudos de Viabilidade , Feminino , Humanos , Recém-Nascido , Instilação de Medicamentos , Masculino , Estudos Prospectivos , Turquia
17.
Eur Rev Med Pharmacol Sci ; 16(14): 1989-93, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23242727

RESUMO

BACKGROUND: The skin of patients with atopic dermatitis (AD) is heavily colonized with Staphylococcus (S.) aureus, even at uninvolved sites. Toxins secreted by the majority of S. aureus on the skin behave as superantigens and can directly influence the disease activity, although clinical signs of bacterial superinfection might be absent. OBJECTIVES: This study was conducted to compare the efficacy of hydrocortisone cream, combined with mupirocin or alone with emmolient ointment for the treatment of mild to moderate AD in infants between six months and two years of age. MATERIALS AND METHODS: A total of 83 patients with mild to moderate AD were randomized to receive hydrocortisone, hydrocortisone+ mupirocin or emmolient ointment twice daily in one week and followed-up for 8 weeks, in a blind study. Efficacy evaluation made by SCORAD and eczema area and severity index (EASI) at baseline, day 7, and weeks 2, 4, and 8. Possible adverse events were recorded to evaluate safety. RESULTS: At the end of study, 65% (17 of 26) of the patients were treated successfully with hydrocortisone ointment based on SCORAD and EASI scores. Also there was a significant improvement in patients combined with mupirocin ointment [74% (20 of 27)]. The percent improvement from baseline in EASI scores was also significantly greater in hydrocortisone and combined group compared with emmolient-treated patients (36%) (p = 0.0187, p = 0.012 respectively). CONCLUSIONS: Monotherapy with hydrocortisone ointment is the main treatment in infants with mild to moderate AD and combination with mupirocin is safe and effective often needed because of possible Staphylococcus carriage.


Assuntos
Antibacterianos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Emolientes/uso terapêutico , Hidrocortisona/análogos & derivados , Mupirocina/uso terapêutico , Pele/efeitos dos fármacos , Infecções Cutâneas Estafilocócicas/tratamento farmacológico , Administração Cutânea , Antibacterianos/administração & dosagem , Antibacterianos/efeitos adversos , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/efeitos adversos , Dermatite Atópica/microbiologia , Dermatite Atópica/patologia , Método Duplo-Cego , Quimioterapia Combinada , Emolientes/administração & dosagem , Emolientes/efeitos adversos , Humanos , Hidrocortisona/administração & dosagem , Hidrocortisona/efeitos adversos , Hidrocortisona/uso terapêutico , Lactente , Mupirocina/administração & dosagem , Mupirocina/efeitos adversos , Pomadas , Projetos Piloto , Índice de Gravidade de Doença , Pele/microbiologia , Pele/patologia , Infecções Cutâneas Estafilocócicas/microbiologia , Infecções Cutâneas Estafilocócicas/patologia , Staphylococcus aureus/efeitos dos fármacos , Staphylococcus aureus/isolamento & purificação , Fatores de Tempo , Resultado do Tratamento , Turquia
18.
Eur Rev Med Pharmacol Sci ; 16 Suppl 4: 62-3, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23090811

RESUMO

Congenital longitudinal deficiency of the fibula (CLDF) is the most common congenital defect involving the long bones. There have been many different classifications developed for fibula deficiency. Achterman and Kalamchi's classification is most commonly used and will be described. Our case was complied with type II. Other anomalies includes cardiac anomalies, thrombocytopenia absent-radius (TAR) syndrome, thoracoabdominal schisis, spina bifida and renal anomalies, but most associated anomalies are skeletal. We here presented firstly in literature an infant with congenital fibula deficiency accompanying with deafness.


Assuntos
Surdez/congênito , Fíbula/anormalidades , Pré-Escolar , Feminino , Humanos
19.
Genet Couns ; 23(3): 341-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23072180

RESUMO

Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly. Cebocephaly is a very rare congenital anomaly combining with semilobar holoprosencephaly. Chromosomal analysis shows normal karyotyping. Lissencephaly and holoprosencephaly are rare associations, that have not been reported yet with cebocephaly. Herein we present the first case of cebocephaly with severe semilobar holoprosencephaly and lissencephaly.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Holoprosencefalia/diagnóstico , Lisencefalia/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Comorbidade , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/genética , Feminino , Holoprosencefalia/epidemiologia , Holoprosencefalia/genética , Humanos , Recém-Nascido , Lisencefalia/epidemiologia , Lisencefalia/genética , Índice de Gravidade de Doença
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA