[The "heart-hand" syndrome in a 8-year-old-boy with short stature].

[holt-oram syndrome]

"Heart -hand " syndrome is a broad category of diseases . The most common form is Holt-Oram syndrome (HOS ) that occurs in approximately 1 :100 000 live births . It is characterized by upper limb defects (carpal bone defects , triphalangeal thumbs , hypoplasia or absence of the thumb and the radial ray ) and cardiac septal defects (atrial septal defects or ventricular septal defects ). There are three main types of "heart -hand " syndromes . "Heart -hand " syndrome type I --HOS is characterised by atrial septal defect and thumb anomaly , type II (Tabatznik syndrome ) by short distal phalanx of the thumb , upper limb abnormalities and cardiac arrhythmias , type III by cardiac conduction diseases and shortening of the middle phalanges . The aim of this report is to present a new case of the "heart -hand " syndrome in the family . This diagnosis was established on the base of clinical examination , radiological findings , and echocardiography . Our patient demonstrates congenital bilateral absence of a radial bone and thumbs , dextrocardia and patent foramen ovale .