Background and Aim Congenital malformations are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to give the frequency and distribution of the congenital malformation in a neonatal intensive care unit from Turkey. Method A retrospective analysis of congenital abnormalities in singleton births was performed to identify frequency, types, combined congenital abnormalities and distribution of malformation in newborns over a 7 year period. Congenital malformations were classified according to involved organ systems and also classed as single and multiple malformations. Result 1024 newborns with congenital malformations (13.7%) were identified among the 7450 hospitalized newborns in neonatal intensive care unit (NICU). Mean birth weight was 2988±648gr, mean gestational age was 37.9±2.5 weeks. Consanguinity rate was 22.3%. Prenatal diagnosis rate was 11%. The most affected system was the cardiovascular system (68.8%). Most of the malformations (69.6%) were single malformations while 20.4% of the newborns had multiple major and 8.4% of the newborns had multiple minor malformations. On the other hand, 1.4%, 0.1% and 1.6% of the newborns had deformation, disruption and displasia, respectively. Chromosomal analysis was only performed 24.8% and 65.3% of them were in normal limits. The most frequently detected chromosomal abnormality was Trisomy 21. Overall mortality rate was 15.5% among the newborns with congenital malformations. Conclusion The most common congenital malformation was cardio-vascular malformations in our hospital. Preventing and prenatal diagnosis of congenital malformations may help to reduce perinatal mortality and morbidity.Therefore, each country should establish its own national database for prevention and management of congenital malformations.
IntroductionScott Aarskog syndrome is an X-linked disorder characterised by short stature, hypertelorism, shawl scrotum in boys and brachydactyly. Syndrome is a genetic abnormality and the condition cannot be cured by optimal way.AimsThe aim of this paper is to describe an extremely rare syndrome especially with mild mental retardation.MethodsIn two cases, the twin brothers and cousins girls where genetically established Scott Aarskog syndrome were made IQ tests in relation to the age of the children. Normally at this syndrome is very rare mental retardation.ResultsBoys with Scott Aarskog syndrome have had a rounded face with a broad forehead, but girls has no had. IQ test results showed that the twins, seven years old had IQ 69 or 71, a girl six years ald girl cousin 78. Affected twin brothers also have an abnormally long groove in the upper lip or philtrum and a broad nasal bridge. Tissue webbing between fingers and joint hypermobility with a pronounced hyperextension, flexion of the interphalangeal joints and brachydactyly in girl and both boys. The major signs of this X-linked condition are short stature. Musculoskeletal anomalies such as cervical vertebral anomalies, discrete spina bifida occulta, mild pectus excavatum, milder genu recurvatum, moderate joint restriction were presented in all three children relatives.ConclusionsThe prognosis of this disease is very bad with something shorter life, reduced everyday abilities for regular jobs, and in this case less severe retardation with disabilities to attend regular school and obtaining the title of the working capacity. Usually IQ in children is normal so this is a rare case that still occurs in Scott Aarskog syndrome.
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