Elzibieta Petriczko

Publications of Elzibieta Petriczko

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

  Authors: Elzibieta Petriczko, Anita Horodnicka-Józwa, Piotr Prowans, Agnieszka Biczysko-Mokosa, Justyna Szmit-Domagalska, Grazyna Dawid, Mieczysław Walczak, Stanisław Zajaczek

  Wiadomości lekarskie (Warsaw, Poland : 1960). 01/2011; 64(1):15-21.

  "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"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.