SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Objective: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents.

Case Description: The patient was the third son of young and healthy parents.

Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease.

Background: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome.

Methods: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil.

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency.

Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome.

Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications.

[Tumor size and prognosis in patients with Wilms tumor].

Objective:: Investigate the relationship of the tumor volume after preoperative chemotherapy (TVAPQ) and before preoperative chemotherapy (TVBPQ) with overall survival at two and at five years, and lifetime.

Methods:: Our sample consisted of consecutive patients evaluated in the period from 1989 to 2009 in an Onco-Hematology Service. Clinical, histological and volumetric data were collected from the medical records.

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.

Context And Objective: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.

Design And Setting: A retrospective study in a referral hospital in southern Brazil.

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.

Context: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.

Case Report: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative.

Unroofed coronary sinus in a patient with neurofibromatosis type 1.

Objective: To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus.

Case Description: Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life.

Gestational, perinatal and family findings of patients with Patau syndrome.

Objective: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS).

Methods: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records.

Wilms tumor: experience of a hospital in southern Brazil.

Background: Wilms tumor (WT) is the most common renal malignancy of childhood. The aim of this study was to verify the epidemiological profile and prognosis of a sample of patients from Brazil and compare them to similar data from other Latin American studies.

Method: The sample consisted of consecutive patients diagnosed with WT in an oncohematology service of a referral hospital in Southern Brazil, between 1989 and 2009.

Craniofacial abnormalities among patients with Edwards Syndrome.

Unlabelled: OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records.

Trisomy 18 and neural tube defects.

Background: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects.

Methods: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18.

Congenital heart defects and extracardiac malformations.

Objective: To review the association between congenital heart defects and extracardiac malformations.

Data Sources: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included.

Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.

Objective: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome).

Data Sources: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases.

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012.

Malformations detected by abdominal ultrasound in children with congenital heart disease.

Background: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality.

Objective: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS.

Methods: We conducted a cross-sectional study with a control cohort.

Limb abnormalities on trisomy 18: evidence for early diagnosis.

Objective: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES).

Method: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings.

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival.

Context: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival.

Case Reports: The first patient was a boy aged six years and five months presenting weight of 14.