Butterfly vertebra is a rare birth defect of the spine which generally asymptomatic. Fewer cases this are reported till now. Here we have case 2 year old female baby, who presented with bilateral lower limb weakness and an involuntary passage stools urine since birth. Magnetic Resonance Imaging (MRI) confirmed cause, showed presence syrinx in spinal cord extending from vertebral level T9-T11, b...

AIM The aim of the study was to estimate the possible risk of adverse birth outcomes of children born to mothers with rheumatoid arthritis (RA). METHODS The dataset of large population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities from 1980-1996 was evaluated including 22,843 cases with congenital abnormalities and 38,151 matched controls without any defect. R...

Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ray defect, hemivertebrae and thrombocytopenia.

Spina bifida is the most common birth defect of central nervous system that compatible with life, and myelomeningocele represents its frequent form. Congenital (CMM) has a worldwide incidence 0.5 to 0.8 per 1,000 live newborns. CMM complex condition resulting from incomplete closure neural tube, mainly in lumbosacral region. The objective surgical repair reconstruction all tissue layers defect,...

Congenital limb defects are rare fetal anomalies with a birth prevalence of 0.55 per 1,000. Amelia is an extremely rare birth defect marked by the complete absence of one or more limbs. We report a case of fetal amelia, ultrasound findings, manifestations and the fetal outcome.

Synophthalmia is a form of cyclopia, in which some elements of two eyes are fused and form a single eye in the middle region of the forehead. The head of a Holstein female calf born from a 5-year-old cow was referred to Department of Pathology, School of Veterinary Medicine, Shahrekord University due to multiple congenital anomalies. The calf had been slaughtered immediately after birth due to ...

Background: Critical congenital heart diseases (CCHDs) are among the most common birth malformations. This study aimed to determine the cardiac and noncardiac diseases in the Iranian healthy newborns using pulse oximetry (POX) as a suggested screening method.Methods: In this cross-sectional study, healthy term and near term neonates who were born from October 2017 to March 2018 were evalu...

AIM This study sets out (a) to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b) to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control...