Urologic abnormalities (UA) have been reported in the literature but not bladder agenesis.1 The occurrence of genitourinary anomalies has been reported in association with numerous pathologic alterations classified as vertebral/skeletal, genital, gastrointestinal, and miscellaneous. The combination of symptoms is nonrandom. These malformations are presumed to result from a disturbed migration o...

Cryptophthalmos is the congenital absence of eyelid with skin passing continuously from the head to the cheeks over a malformed eye. The term cryptophthalmos was coined by Zehender and Manz in 1872, when they first described a patient with bilateral cryptophthalmos and multiple congenital anomalies(l). In 1962 Fraser described 4 cases of cryptophthalmos and multiple malformations in two sibship...

<p>Irritable bowel syndrome (IBS) is the most commonly diagnosed gastrointestinal condition that reduces patients' quality of life. It has multifactorial etiology. Nowadays it thought more than one etiologic factor may contribute to heterogeneous symptoms IBS. Crossed fused ectopic kidney a where both kidneys are situated on side and drain bilaterally into urinary bladder. Most often, dis...

OBJECTIVES 'Persistent cloaca' is a severe malformation affecting females in which the urinary, genital and alimentary tracts share a single conduit. Previously, a Uroplakin IIIA (UPIIIA) mutation was reported in one individual with persistent cloaca, and UPIIIA, Sonic Hedgehog (SHH), Ephrin B2 (EFNB2) and Hepatocyte Nuclear Factor 1beta (HNF1beta) are expressed during the normal development of...

Uterine arteriovenous malformation (AVM) can cause massive hemorrhage and is often treated with uterine artery embolization (UAE), which may lead to ovarian insufficiency. Thus, avoiding UAE should be considered, particularly in women undergoing fertility treatments. We present three women diagnosed with postmiscarriage AVM on color Doppler by transvaginal ultrasound imaging. They had no genita...

The smad binding protein 1 gene (SMADIP1, MIM 605802) has been recently identified as a disease causing gene in a polytopic embryonic defect (MIM 235730) including midline anomalies, facial dysmorphic features and enteric nervous system malformation (Hirschsprung disease). To confirm the pleiotropic role of SMADIP1 during embryogenesis and investigate its role in neural crest cell derivatives d...

The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. This malformation is one of causative factor of death in neonates and infants. A thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of Chiari II ma...

the arnold-chiari malformation is a congenital abnormality of cns, characterized by downward displacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into the spinal canal. this malformation is one of causative factor of death in neonates and infants. a thorough understanding of the direct and indirect sonographic findings is necessary for diagnosis of chiari ii ma...

BACKGROUND Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions...