Ostalo
Asymmetric Neonatal Crying: Microdeletion, Infection or Birth Injury? - A Case Report
Kornelija Koši-Šantić
; General Hospital Virovitica, Department of Paediatrics, Virovitica, Croatia
Dijana Rudan
; University of Zagreb, Dubrava University Hospital, Department of Internal Medicine, Zagreb, Croatia
Damir Buković
; University of Zagreb, Zagreb University Hospital Center,Department of Gynecology and Obstetrics, Zagreb, Croatia
Jadranko Šegregur
; General Hospital Virovitica, Department of Gynecology and Obstetrics, Virovitica, Croatia
Jasenka Wagner
; »J. J. Strossmayer« University, School of Medicine Cytogenetics Laboratory, Osijek, Croatia
Slavko Orešković
; University of Zagreb, Zagreb University Hospital Center,Department of Gynecology and Obstetrics, Zagreb, Croatia
Tomislav Župić
; University of Zagreb, Zagreb University Hospital Center,Department of Gynecology and Obstetrics, Zagreb, Croatia
Mirjana Radan
; General Hospital Čakovec, Department of Gynecology and Obstetrics, Croatia
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.
Ključne riječi
asymmetric neonatal crying; microdeletion 22q11.2; congenital malformation; TORCH; birth injury
Hrčak ID:
120920
URI
Datum izdavanja:
31.3.2014.
Posjeta: 2.342 *