1/33. A patient with VACTERL association, amelia and hemifacial microsomia.We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.- - - - - - - - - - ranking = 1keywords = anal atresia, atresia (Clic here for more details about this article) |
2/33. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 0.015965240012185keywords = atresia (Clic here for more details about this article) |
3/33. Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin.The etiology of sirenomelia sequence is still obscure. The role of maternal diabetes and a vascular steal phenomenon have been discussed [Gurakan et al. (1996) Turk J Pediatr 38:393-397]. Discordant monozygotic twin sirenomelia has been commonly reported but only rarely in dizygotic twins. The family of the presented twins had a high risk of diabetes mellitus. One of the twins has type 1 sirenomelia and the other had only an imperforate anus.- - - - - - - - - - ranking = 0.040098606554983keywords = anus (Clic here for more details about this article) |
4/33. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 0.015965240012185keywords = atresia (Clic here for more details about this article) |
5/33. Sirenomelia with esophageal atresia.Sirenomelia, is a rare fatal condition characterized by fusion of the lower extremities. It has been suggested that sirenomelia is a severe form of caudal regression syndrome complex for which the pathogenesis is controversial. Our case is a sirenomelia associated with esophageal atresia and tracheoesophageal fistula. In the literature, it has been pointed out that the VATER association may represent a less severe form of sirenomelia but no sirenomelia case associated with esophageal atresia and tracheoesophageal fistula has been found. Finally, we detected a single large artery which diverts the blood of the embryo's caudal part to the placenta with the detailed autopsy especially with focusing on the abdominal vasculature. This vascular steal is thought to be the main pathogenic mechanism of the condition.- - - - - - - - - - ranking = 0.095791440073111keywords = atresia (Clic here for more details about this article) |
6/33. First-trimester diagnosis of sirenomelia. A case report.We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later in the second trimester of pregnancy with oligohydramnios as the alerting sign. survival is extremely rare, and only possible in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion.- - - - - - - - - - ranking = 0.015965240012185keywords = atresia (Clic here for more details about this article) |
7/33. Caudal regression syndrome versus sirenomelia: a case report.We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery. Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed.- - - - - - - - - - ranking = 1keywords = anal atresia, atresia (Clic here for more details about this article) |
8/33. Sirenomelia in uneventful pregnancy.A rare case of sirenomelia at 38 weeks of gestation is reported. Fusion of the lower extremities and incomplete development of the bony pelvis was associated with agenesis of the urinary and genital systems, anorectal atresia and a single large umbilical artery. There was complete situs inversus of the single lower limb. This was composed of two partially fused femurs, a common tibia without fibula, and a rudimentary foot having three metatarsal bones and their corresponding toes. The present case was also interesting for its association with hypoplasia of the lungs. The pathogenesis of sirenomelia is discussed.- - - - - - - - - - ranking = 0.015965240012185keywords = atresia (Clic here for more details about this article) |
9/33. Mermaid syndrome with amniotic band disruption.An association of Amniotic Band Disruption Sequence and Mermaid syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.- - - - - - - - - - ranking = 0.015965240012185keywords = atresia (Clic here for more details about this article) |
10/33. Sirenomelia: case of the surviving mermaid.This report describes a neonate with sirenomelia who was recently treated at british columbia Children's Hospital. prenatal diagnosis was made at 29 weeks' gestation. survival was not anticipated. Cesarean-section at term showed a live 2,375-g infant with excellent Apgar scores. Anomalies noted were fused lower extremities, imperforate anus, colon atresia, bilateral fused pelvic kidneys with renal dysplasia, pelvic and sacral dysplasia, and genital abnormalities. laparotomy and colostomy were performed. All other anomalies are compatible with life and she is neurologically normal. Eventual separation of the lower extremities is planned. This is the second reported case of survival in a patient born with sirenomelia.- - - - - - - - - - ranking = 0.023984961323182keywords = atresia, anus (Clic here for more details about this article) |
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