Ocular Reconstruction in a Newborn with MOTA Syndrome

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the follow...

Kaposiform Hemangioendothelioma in a Newborn with Kasabach-Merritt Syndrome

A Newborn Infant with a Pulsatile Substernal Structure in a Midline Defect; Cantrell's Syndrome

The present report describes a male newborn with a pulsatile structure beneath the sternum. Echocardiography showed common atrium, a single ventricle, mitral atresia, double outlet right ventricle, subpulmonary stenosis, small pulmonary artery branches, and a thin walled ventricular diverticulum suggestive of Cantrell's syndrome. The diverticulum was resected to prevent life threatening events ...

kaposiform hemangioendothelioma in a newborn with kasabach-merritt syndrome

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patellofemoral ligament reconstruction in a patient with rubinstein-taybi syndrome.

recurrent dislocation of patella may occur in patients with ligament laxity. method of treatment in this condition is controversial but patellofemoral ligament reconstruction is the most accepted method. we present a patient with rubinstein-taybi syndrome and recurrent patellar dislocation who managed successfully by patellofemoral ligament reconstruction.