Jarcho Levin syndrome is a rare disorder. There are various vertebral and costal anomalies. Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. We present anaesthesia in a patient with Jarcho Levin syndrome for vesicoureteral reflux.

Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the f...

Two infants with the Jarcho-Levin syndrome of vertebral anomalies underwent flexible fibre optic bronchoscopy. Central airway abnormalities not amenable to surgical correction were found in both patients. These abnormalities may contribute significantly to the respiratory failure seen in affected infants, and should be considered when evaluating continuing medical support.

The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment an...

Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...

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...

A case is reported of a 72-year-old woman who presented with severe vertigo, vomit, and mild neck and occipital pain. She had a medical history of hypertension, angina pectoris, cholelithiasis, gastric ulcer, pyelonephritis and periodical mild dizziness. Neuroimaging revealed right vertebral artery occlusion, right cerebellar stroke and basilar impression. The therapeutic approach chosen in our...

Posterior mediastinal enteric cysts are infrequently reported. They are mostly asymptomatic 1. The incidence of gastroenteric cysts presenting during immediate neonatal period is rare. Alimentary tract duplications are other rare congenital anomalies and are commonly seen in relation to the ileum. However, the high incidence of associated thoracic or cervical vertebral anomalies with foregut cy...

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...

The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia ...