نتایج جستجو برای: infant anomalies
تعداد نتایج: 136841 فیلتر نتایج به سال:
a 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. she had consanguinity with her husband. a female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. the disease locus was assigned to chromosome17q21. four days later, infant died of cardiopulmonary arrest.
Vater association is a congenital syndrome consisting of vetebral anomalies, imperforate anus, tracheo esophageal fistula and renal/radial abnormalities. In recent two decades, association of various other anomalies with this syndrome has been reported and extensive studies regarding its early diagnosis, management and prognosis have bee...
introduction robinow syndrome (rs) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening, hand and foot anomalies, and hypoplastic genitalia. the robinow syndrome has been reported from the arab countries and other asian countries, but has not been reported in iranian population so far. case presentation a new bor...
ECR 2004 – Categorical Course “Pediatric Radiology” Abstract Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental ...
We report an infant with intrauterine growth retardation and transient neonatal diabetes who has paternal uniparental disomy for chromosome 6. The infant was not dysmorphic and had no congenital anomalies. To our knowledge, this is the third case of paternal uniparental disomy occurring in an infant with transient neonatal diabetes, thus confirming the association.
Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies and cerebral palsy of unknown et...
We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.
Background: Neonatal deaths stand for almost two-thirds of all deaths occurring in infants under one year of age. Congenital anomalies are responsible for 24.5% of these cases forming a highly important issue for health policy-makers.Methods: We studied the pre-, peri- and post-natal conditions of 77 patients with multiple congenital anomalies (MCA) through genetic counseling at Several univers...
Jarcho-Levin syndrome a very rare anomaly is described for a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. The patient is two months old infant with spondylocostal dysostosis and bilateral direct recurrent inguinal hernia. He was successfully operated by a new method and after 36 months follow up he did not have any problem.
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