Treinta y cuatro de ellos (8%) tenían cardiopatía congénita cianótica (14 con tetralogía Ciento cinco pacientes (38%) conocían que tenían cardiopatía, pero no. FUNDAMENTO: As crianças com cardiopatia congênita geralmente são . Um total de 38 crianças foi incluído no estudo, sendo 53% do sexo feminino, e 76% sexo ou tipo de cardiopatia (cianótica e acianótica) e consumo alimentar das. Rev Bras Cir Cardiovasc vol no.3 São José do Rio Preto July/Sept. 61 pacientes submetidos a BAP por cardiopatia congênita de hiperfluxo no Hospital . de 1 mm/kg de peso, se cardiopatia for acianótica ou cianótica respectivamente.

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A Report of Two Cases. Directory of Open Access Journals Sweden. Full Text Available Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita DC is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features.

DC has increased risk of developing constitutional anemias and malignancies and cianorica diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Hence, dentists need to be aware of the various manifestations of this fatal syndrome.

Only few cases have been reported on DC in the dental literature. Two cases of DC are reported here with a brief review of the literature. In some casesblisters and Report of two cases and mutation analysis.

El adulto con cardiopatía congénita

Full Text Available Pachyonychia congenita PC comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently.

Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm cardiopxtia clinical impression. A case of dyskeratosis congenitz with primary amenorrhea and adenocarcinoma of cardiopaia.

Full Text Available Dyskeratosis congenita DC is a rare disease characterized by hyperpigmentation, nail dystrophy and mucous membrane abnormality. Commonly occurring in males, the patients die young usually due to bone marrow suppression. We report the case of a female patient with DC, who presented to us with severe wasting and primary amenorrhea and died of carcinoma stomach in our hospital 3 weeks later.

The role of diclofenack on inducing of aplasia cutis congenita: Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. It is a rare condition with no particular race or sex more at congenit.

May occur by itself or be associated with other physical syndromes or disorders. A classification system cqrdiopatia for aplasia cutis congenital consisting of 9 groups, based on the number and location of the skin defects and the presence or absence of other malformations. Causes of aplasia congenital could be heredity, teratogenic substances, placental infarcts, intrauterine infections, ectodermal dysplasias etc.

Diagnosis is made based on the clinical findings. Prognosis depends of the other organs malfunction level and lesions size. Our case was an 22 months old Albanian girl, who was recommended to dermatology for a consultation by a pediatric surgeon because congenta the changes she ho on her parietal part of the scalp with missing hair areas. The child has stenosis congenita ani and to her was installed stoma.

In order to investigate other accompanied anomalies of the disease, there are made specific consults by neurologist, orthopedist, cardiologist, nephrologists and citogenetics.


It was found out a minor visual discoordination, Sy Floppy, Digiti V superductus pedis bill. It was a great challenge for us to find out that during the first trimester of the pregnancy unplanned pregnancyher mother used Diclofenac. Since there is limited information regarding to teratogenic effects of diclofenac, we considered it interesting to present this case. Aplasia cutis congenita in a Nigerian child: X-linked adrenal hypoplasia congenita: Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency.

Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, cianorica hyperkalemia.

Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal hydroxyprogesterone level.

He was diagnosed with hydroxylase deficiency based on low hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months.

At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level.

He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita AHC. His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to cianotkca families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing.

We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Cardiopaatia case raises a question unique to the era of assisted reproduction: A Report of 3 Cases.

Although bone marrow failure in patients with dyskeratosis congenita DKC can be successfully treated with allogeneic hematopoietic cell transplantation allo-HCT using a reduced intensity conditioning RIC regimen, the outcome of nonhematological disorders in patients with DKC treated with allo-HCT using RIC has not been fully elucidated.

Allo-HCT with RIC was feasible in all cases ; however, patient 1 developed lethal pulmonary disease and patient 2 experienced progression of hepatic fibrosis. Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature.

Full Text Available Arthrogryposis multiplex congenita AMC is characterized by contractions of multiple joints present at birth with fat or fibrous tissue partially or totally replacing muscles.

The etiology is from the interplay of genetic and environmental factors. Carriopatia 2-day-old male term neonate presented with a history of multiple contractures in all limbs since birth, fever, and vomiting of 1-day duration. An older sibling, a male child had similar multiple contractures in all limbs and died a few days after birth.

Assessment of food intake in infants between 0 and 24 months with congenital heart disease

A maternal aunt had a male child with multiple contractures of all limbs who also died a few days after birth. Parents are young and not related. Our case had multiple contractures and specific posture involving all the limbs; however no cardiac or neurological abnormality was observed. He was managed as a case of neonatal sepsis with AMC likely X-linked with antibiotics and had plaster of Paris applied on the lower limbs.

He did well and was discharged home to be followed up at the clinic. He, however, did not come for follow-up and died at home at the age of 10 weeks. Arthrogryposis is a common congenital presentation which requires comprehensive musculoskeletal evaluation and genetic consultation.

Early rehabilitation requires the involvement of the parents or guardians and a multidisciplinary approach. This is to optimize possibility of making a diagnosis and providing parents with accurate information regarding the likelihood of recurrence. Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: A female infant presented with Adams-Oliver syndrome AOSintrauterine growth retardation, severe cutis marmorata telangiectatica congenitabilateral congenital cataract, and periventricular lesions.


The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes.

This observation further supports the current understanding of the physiopathology of AOS. Background Aplasia cutis congenita is a disorder where e newborn child is missing skin from certain areas. Causes of aplasia congenital could be heredity, tera Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism.

Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Full Text Available Introduction.

X-linked adrenal hypoplasia congenita AHC is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death.


Low maternal estriol E3 levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone DHEA synthesized in the fetal adrenals. In case conhenita adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum.

There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. The same ciaotica was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum.

Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female.

This paper presents a case of a man, year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal cardioopatia. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case.

Full Text Available Pachyonychia congenita PC is a rare genodermatosis with only cases reported since