Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutati...

Objective. The great possibility of variations in the clinical presentation of hypospadia, makes its therapy challenging. This has led to the development of a number of techniques for hypospadia repair. This article assesses past and present concepts and operative techniques with the aim of broadening our understanding of this malformation. Materials and Methods. The article not only reviews hy...

Introduction: Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 3500 to 5000 live births. Since the early era of its management, its treatment has gone through an enormous phase of evolution leading from gloomy outcome in the past to nea...

Oesophageal atresia and/or tracheo-oesophageal fistula are common malformations occurring in approximately 1 in 3500 births. In around half of cases (syndromic oesophageal atresia), there are other associated anomalies, with cardiac malformations being the most common. These may occur as part of the VACTERL association (OMIM 192350). In the remainder of cases, oesophageal atresia/tracheo-oesoph...

A uterine malformation is a type of female genital malformation resulting from an abnormal development of the Müllerian duct(s) during embryogenesis. Symptoms range from amenorrhea, infertility, recurrent pregnancy loss, and pain, to normal functioning depending on the nature of the defect. Study was conducted for about the 12 month. In this duration the subjects between the age group of 18-48 ...

INTRODUCTION Many fetal malformations can occur because of maternal diabetes. However, ambiguous genital organs have never been reported as an associated finding in the literature. This is the first report of associated ambiguous genital organ and bilateral adrenal hyperplasia in a case of diabetic fetopathy. CASE PRESENTATION A 19-year-old Thai primigravida with familial history of diabetes ...

We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion...

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in AC...

We describe here a case report of a female patient with a unicornuate uterus with noncommunicating left rudimentary horn. The patient presented herself to us due to persistent lower abdominal pains, primarily dysmenorrhea and suspected internal genital endometriosis. Further to additional diagnosis and imaging by vaginal and abdominal ultrasound and abdominal MRI, a suspected rare congenital ma...

Aim: Hypospadias is a relatively common male genital anomaly that may be caused by anomalies in maternal hormone levels and/or blood glucose levels as well as nutritional deficiencies. Maternal obesity, which increases the risk of diabetes, may alter hormone levels, and may thereby be associated with risk of hypospadias. This study was designed to determine the impact of these risk factors on h...