title: [The "heart-hand" syndrome in a 8-year-old-boy with short stature].
abstract: "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.
authors.affiliation: Klinika Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego PUM w Szczecinie. elzbietapetriczko@gmail.com
authors.forename: Elzibieta
authors.initials: E
authors.lastname: Petriczko
authors.forename: Anita
authors.initials: A
authors.lastname: Horodnicka-Józwa
authors.forename: Piotr
authors.initials: P
authors.lastname: Prowans
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Biczysko-Mokosa
authors.forename: Justyna
authors.initials: J
authors.lastname: Szmit-Domagalska
authors.forename: Grazyna
authors.initials: G
authors.lastname: Dawid
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Walczak
authors.forename: Stanisław
authors.initials: S
authors.lastname: Zajaczek
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis*