OBJECTIVE To describe the management and functional outcome of anorectal malformations and associated anomalies according to Krickenbeck classification. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY The Aga Khan University Hospital, Karachi, from January 2002 to December 2012. METHODOLOGY Anorectal anomalies were classified according to Krickenbeck classification. Data was collect...

often involved in tumorigenesis. Recent exhaustive cDNA microarray analyses in human neoplasms expanded knowledge of such molecules. Hepatocyte nuclear factor-1ß (HNF-1ß) is a homeobox transcription factor that functions as a homodimer or heterodimer with HNF-1α. In contrast to HNF-1α, HNF-1ß is very weakly expressed in the liver and is commonly expressed in the kidneys. During human embryonic ...

Malformations of the external genitalia are among the most common congenital anomalies in humans. The urogenital and anorectal sinuses develop from the embryonic cloaca, and the penis and clitoris develop from the genital tubercle. Within the genital tubercle, the endodermally derived urethral epithelium functions as an organizer and expresses sonic hedgehog (Shh). Shh knockout mice lack extern...

Background Multiple pregnancies occur more frequently in assisted reproductive technology (ART) compared to normal conception (NC). It is known that the risk of congenital malformations in a multiple pregnancy are higher than single pregnancy. The aim of this study is to compare congenital malformations in singleton infants conceived by ART to singleton infants conceived naturally. MATERIALS ...

BACKGROUND Hydrometrocolpos (HMC) develops as a result of vaginal outflow obstruction and the accumulation of secretions. It might be secondary to persistent cloaca, urogenital sinus, some syndromes, presence of the vaginal septum, vaginal atresia, and imperforate hymen. Each of them has different treatment options and follow-up protocols. This study was performed to identify the etiology and t...

INTRODUCTION Congenital absence of the vas deferens (CUAVD) is a rare clinical entity, usually discovered accidently during surgical procedures of the urogenital zone, CUAVD has the prevalence of 0.5-1.0% in male population and it is associated with various forms of congenital genitourinary malformations like renal agenesis. we present a case of a 21 years old, male, managed in our private hosp...

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of th...

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allow...

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on B...