Naslov
Asymmetric Neonatal Crying: Microdeletion, Infection or Birth Injury? – A Case Report

Autori
Koši-Šantić, Kornelija ; Rudan, Dijana ; Buković, Damir ; Šegregur, Jadranko ; Wagner, Jasenka ; Orešković, Slavko ; Župić, Tomislav ; Radan, Mirjana

Izvornik
Collegium antropologicum (0350-6134) 38 (2014), 1; 331-335

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
asymmetric neonatal crying ; microdeletion 22q11.2 ; congenital malformation ; TORCH ; birth injury

Sažetak
Asymmetric neonatal crying is a rare minor congenital abnormality caused by unilateral agenesis or hypoplasia of depressor anguli oris muscle and depressor labii inferioris muscle. It is either an isolated clinical finding or one of the clinical findings included in several malformation syndromes linked to a microdeletion within a chromosomal region 22q11.2. Some malformations in that region are associated with serious cardiovascular anomalies. Nowadays, standard diagnostic techniques for detecting aberrations within the chromosomal region 22q11.2 are fluorescence in situ hybridization (FISH) and multiplex ligation probe amplification (MLPA). This short report describes an eutrophic female newborn whose both lip corners are symmetrically positioned while at rest ; while crying, left lip corner and left half of the lower lip are falling. She also has partial bilateral syndactyly between second and third toe, open foramen ovale and by ultrasound detected hyperechogenic region in the thalamus and brain parenchyme. Aiming to investigate etiopathogenesis of the newborn asymmetric crying and accompanying minor abnormalities, we have tried to verify or exclude: microdeletion syndrome, TORCH infection and birth injury. Recognising such a paresis soon after the delivery is of great importance and can be helpful in detecting other accompanying anomalies, especially cardiovascular anomalies.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA