85 Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome Tomoko Mitsuhashi, Katsuhiko Warita, Teruo Sugawara, Yoshiaki Tabuchi, Ichiro Takasaki, Takashi Kondo, Fumio Hayashi, Zhi-Yu Wang, Yoshiki Matsumoto, Takanori Miki, Yoshiki Takeuchi, Yasuhiko Ebina, Hideto Yamada, Noriaki Sakuragi, Toshifumi Yokoyama, Takashi Nanmori, Hiroshi Kitagawa, Je...

Considerable numbers of congenital cardiac anomalies are missed at the time of delivery. Study reports show that congenital cardiac anomalies are the second most common birth defect in many countries. Despite this fact, our previous study showed that the prevalence of congenital cardiac anomalies is the fifth most common one, indicating that many of these defects might not be properly diagnosed...

the advancement in the healthcare systems, stringent interventions for infectious diseases and improved diet has significantly shifted the patterns of morbidities, and consequently hereditary and congenital anomalies (ca) and non-communicable diseases (ncds) have emerged as the most common causes of morbidity and mortality. in pakistan, there is no systematic health surveillance system to asses...

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Müllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies. A...

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the impo...

AIM Congenital anomalies of the inferior vena cava (IVC) are very rare and extremely diverse, reflecting the complexity of the embryological development of these structures. The variants must be differentiated from pathology, particularly lymphadenopathy, on imaging studies as their presence can affect surgical and interventional procedures in retroperitoneum. We describe two patients with rena...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...