Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare dise...

Sirenomelia is a very rare anomaly presented with fusion of the lower limbs. Genitourinary, neural tube, and vertebral anomalies are found in most cases. We report a case of sirenomelia with agenesis of corpus callosum, which has not been reported previously.

We report four children with sternomastoid contracture combined with torticolis secondary to congenital vertebral anomalies. Two had features of Klippel-Feil syndrome and a proximal release of the contracted sternomastoid produced good cosmetic correction initially. Progression of the deformity occurred subsequently without recurrence of sternomastoid contracture. One child had such mild deform...

BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...

BACKGROUND The aromatase inhibitor letrozole has recently been identified as a promising ovulation-inducing agent. As information regarding possible adverse effects on gestation outcome is limited, the present study was undertaken to evaluate the developmental toxicity potential of letrozole in the rat. METHODS Pregnant Sprague-Dawley rats were exposed via drinking water to letrozole at 0 (co...

Mediastinal enteric cysts are a rare occurrence among adults and are usually asymptomatic. In most cases they are an incidental finding in the right hemi-mediastinum and are associated with vertebral anomalies. We report the unusual case of a 23 year old male who had a mediastinal mass on chest X-ray as an incidental finding. Chest Computed Tomography (CT) scan revealed no vertebral anomalies a...

By ELSIE \V. HOUSTON, STEPHAN E. RITZMANN AND WILLIAM C. LEVIN B OTTURA ET AL.’ and German et al.,2 in 1961, described a unique chromosomal abnormality in a patient with primary macroglobulinemia (Waldenstr#{246}m ). Similar findings have subsequently been reported in 11 patients.3’9 Two types of abnormal chromosomes have been recognized: a metacentric larger than any other in the cell2 and a s...

Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondyloc...

A 7.5-yr-old female southern white rhinoceros (Ceratotherium simum simum) aborted spontaneously at approximately 13 mo gestation. The fetus exhibited malformations consistent with schistosomus reflexus syndrome, including spinal inversion and ventral midline abdominal defect with externalization of abdominal viscera. A computed tomography was performed and revealed severe scoliosis, a spiral ro...

The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased preva...