A male infant with the Catel-Manzke syndrome and dislocatable knees.

Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre ...

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), ...

Thèse / Ens Cachan -bretagne École Doctorale Matisse Présentée Par Pierre-yves Schobbens Stefan Haar Axel Legay Didier Lime Stephan Merz Claude Jard

Clinical Report Cardiomyopathy in Coffin–Lowry Syndrome

Jennifer J. Facher, Elizabeth J. Regier, Gretta H. Jacobs, Ernest Siwik, Jean-Pierre Delaunoy, and Nathaniel H. Robin* Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio Department of Pathology, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland Oh...

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 ...