HOLT-ORAM SYNDROME – THE IMPORTANCE OF EARLY DIAGNOSIS AND INTERDISCIPLINARY APPROACH. A CASE REPORT
Autori:
Zora Zakanj
Sažetak
Opisujemo kliničku sliku u muškog novorođenčeta s nedostatkom palca šake i hipoplastičnom podlakticom te s defektom interatrijskog septuma tipa sekundum (ASD II). Dijete nema drugih koštanih anomalija niti dismorfije lica. Morfologija mozga je uredna. Od srčanih abnormalnosti ima i otvoreni arterijski kanal, bez abnormalnosti u EKG zapisu. Nalaz kompletne krvne slike je uredan. U spektru nasljednih bolesti iz grupe »srce-šaka« klinička slika u našeg pacijenta uklapa se u Holt-Oramov sindrom (HOS). Uloga je neonatologa da u slučaju anomalija palca šake ili gornjih udova posumnja i na moguću srčanu grješku i da roditelje uputi na pravodobnu, interdisciplinarnu skrb za takvo dijete.
Summary
We describe clinical presentation in a male newborn baby who presented with thumb aplasia, forearm hypoplasia and secundum atrial septal defect (ASD II). The child has no other bone anomalies or facial dysmorphism. The ultrasound morphology of the brain is normal. He has patent ductus arteriosus, without abnormalities in the ECG record. Complete blood count (CBC) is normal. In the spectrum of hereditary diseases from the group »heart-hand«, clinical presentation in our patient corresponds to Holt-Oram syndrome (HOS). The role of the neonatologist in case of anomalies of the thumb or upper limb, is to exclude possible heart failure and instruct parents about timely, interdisciplinary care for the child.
