Congenital Hypoplastic Thrombocytopenia with Skeletal Deformities in Siblings

Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings.

By SIDNEY SHAw AND R. A. M. OLIVER H AUSERTM described a case of primary congenital aphasia of megakaryocytes with other congenital deformities. Several other instances of a similar condition associated with absent radii have recently been reviewed by Emery, Gordon, Rendle-Short, Varadi and Warrack.1 Gross, Groh and Weippl7 have described four cases of congenital hypoplastic thrombocytopenia wi...

Asymptomatic congenital heart disease in children with skeletal chest deformity

Introduction: With respect to high association of skeletal chest deformity with cardiac abnormalities, these patients should be evaluated for evidence of cardiac involvement. So, we used echocardiography to investigate this association. Methods: This case-control study was done on 144 patients with skeletal chest deformity referred to OPD clinic. 240 persons were selected as control group, with...

Congenital Deformities.

Non-surgical Management of Congenital Auricular Deformities

BACKGROUND Unlike congenital auricular malformations which are identified by underdevelopment of dermal and cartilaginous tissues, deformed ears are less sever congenital anomalies characterized only by a misshaped pinna structure and can be improved with acceptable cosmetic results and minimal cost through ear molding if treated in early neonatal period. In this study, authors present the f...

Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia.

An in vitro marrow culture assay designed to measure erythropoietic capability was used to ascertain the presence of an inhibitor in the sera of patients with congenital hypoplastic anemia (CHA). Marrow cells from nine anemic CHA patients responded to the stimulatory effect of exogenous erythropoietin (EPO) by an increase in heme synthesis in the presence of normal serum. The effect on heme syn...