Débora Gusmão Melo

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Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl,(More)
OBJECTIVE To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory(More)
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.
Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced de novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently(More)
Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental retardation, growth deficiency, poor motor ability, micrognathia, microcephaly, congenital heart defects, and kidney abnormalities. The oral findings typically observed in these patients are: cleft lip and a high, narrow, and sometimes cleft(More)
A qualitative study's methodological transparency is considered a key factor for achieving its reliability and should be guaranteed by the researchers. Closing the sampling process by saturation is a common approach, but it is rarely made explicit in research reports. Qualitative researchers also commonly experience technical difficulties in objectively(More)
As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics(More)
Genetic diseases and congenital anomalies are the second most common cause of infant mortality in Brazil. In 2009, the Ministry of Health established the National Policy for Integral Attention in Clinical Genetics in the Brazilian Unified National Health System (UNHS). This policy is not yet regulated, and there is a fear that, in the name of the(More)
The reliability of the information on congenital defects listed in birth certificates of the Live Birth Information System (SINASC) in the City of São Carlos, São Paulo, Brazil, was evaluated. A descriptive study that reviewed all 15,249 birth certificates from 2003 to 2007 compared the data with information from medical records and death certificates.(More)
OBJECTIVE To analyze the neonatal screening program for hemoglobinopathies in Sao Carlos, Sotheast Brazil, by investigating a series of cases which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at hospital and at primary health care, in addition to information(More)