Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...

Congenital disorders are a group of rare diseases and one the health problems that often overlooked. disorder needs to get more attention because it can affect quality life patient affected family. Because its impact on patient's in future, early detection is needed be able provide intervention minimize long-term effects. Doctors who work primary facilities have an important role congenital abn...

Congenital abnormalities of the breast and chest wall are seen frequently in breast, pediatric and plastic surgery clinics. Management involves a multidisciplinary team approach. The treatment for many of these conditions includes surgical correction. If the child is still growing, treatment timing is crucial and many of the surgical corrective procedures require more than one operation over a ...

Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies. Postaxial ray polydactyly usually occurs in male blacks without associated congenital abnormalities. We report a case of postaxial ray tetrapolydactyly in a female neonate which occurred sporadically and without associated congenital...

Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 100,000 live births. It is a autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed TBX5 gene attributed as the main cause HOS. Our patient his late 40s was diagnosed Syndrome. H...

Thirty-five fetal deaths (30.4%) and 12 cases of congenital abnormality (15.0%) occurred in 117 subsequent pregnancies and 80 sibs of 112 consultands who had babies with unidentified multiple congenital abnormalities after genetic counselling. The specific recurrence risk of unidentified multiple congenital abnormalities was 5%.

Congenital defects of the femur vary from simple hypoplasia of the bone to complete absence. Classification of these defects has been suggested by Nilsonne (1928) and by Mouchet and Ibos (1928), but neither has met with general acceptance. In more recent years Golding (1939, 1948) has demonstrated the close association of the short femur with congenital coxa vara, and has emphasized that these ...

Among all fetal anomalies, the central nervous system anomalies represent one of the most frequently involved structures with an estimated incidence of 1 per 100 births. It is mostly difficult to make an accurate diagnosis of congenital brain malformation, based on clinical findings; thus use of computed tomography (CT) or magnetic resonance imaging (MRI) is essential in these cases. The aim of...

Congenital goiter is a very uncommon cause of neonatal neck mass. Administration antithyroid drugs or radiation exposure during pregnancy may result in reduced synthesis thyroxine and congenital with without thyroid dysfunction. We report case full term, newborn male baby who had normal functions but was born swelling no apparent abnormalities. Maternal investigations for function tests were fo...