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Scientific paper - Case study
Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report
Collegium Antropologicum, 38 (2014), 1; 331-335. urn:nbn:hr:105:860802
Koši-Šantić, Kornelija; Rudan, Dijana; Buković, Damir; Šegregur, Jadranko; Wagner, Jasenka; Orešković, Slavko; Župić, Tomislav; Radan, Mirjana

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Koši Šantić, K., Rudan, D., Buković, D., Šegregur, J., Wagner, J., Orešković, S. ... Radan, M. (2014). Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report . Collegium Antropologicum, 38. (1), 331-335. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:860802

Koši Šantić, Kornelija, et al. "Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report ." Collegium Antropologicum, vol. 38, no. 1, 2014, pp. 331-335. https://urn.nsk.hr/urn:nbn:hr:105:860802

Koši Šantić, Kornelija, Dijana Rudan, Damir Buković, Jadranko Šegregur, Jasenka Wagner, Slavko Orešković, Tomislav Župić and Mirjana Radan. "Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report ." Collegium Antropologicum 38, no. 1 (2014): 331-335. https://urn.nsk.hr/urn:nbn:hr:105:860802

Koši Šantić, K., et al. (2014) 'Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report ', Collegium Antropologicum, 38(1), pp. 331-335. Available at: https://urn.nsk.hr/urn:nbn:hr:105:860802 (Accessed 26 November 2024)

Koši Šantić K, Rudan D, Buković D, Šegregur J, Wagner J, Orešković S, and sur.. Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report . Collegium Antropologicum [Internet]. 2014 March [cited 2024 November 26];38(1):331-335. Available at: https://urn.nsk.hr/urn:nbn:hr:105:860802

K. Koši Šantić, et al., "Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report ", Collegium Antropologicum, vol. 38, no. 1, pp. 331-335, March 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:860802. [Accessed: 26 November 2024]

Metadata
Title (english)Asymmetric neonatal crying: microdeletion, infection or birth injury?--a case report
Title (croatian)Asimetrični plač novorođenčadi: mikrodelecija, infekcija ili porodna trauma? - prikaz slučaja
AuthorKornelija Koši-Šantić
AuthorDijana Rudan
AuthorDamir Buković
AuthorJadranko Šegregur
AuthorJasenka Wagner
AuthorSlavko Orešković
AuthorTomislav Župić
AuthorMirjana Radan
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Abstract (croatian)
Asimetrični plač novorođenčadi je rijetka minor kongenitalna anomalija čiji je uzrok jednostrana ageneza ili hipoplazija mišića depressor anguli oris i depressor labii inferioris, često izolirani nalaz ili povezana s drugim kongenitalnim anomalijama, posebno kardiovaskularnim. Mikrodelecije locirane na kromosomu 22q11.2 uzrokom su nekoliko malformacijskih sindroma koje se u pojedinih bolesnika češće međusobno kombiniraju. Današnji standardni dijagnostički postupci za otkrivanje aberacija unutar kromosomske regije 22q11.2 su fluorescentna in situ hibridizacija (FISH) te metoda višestrukog umnažanja vezanih sondi (MLPA). U radu je prikazano donošeno eutrofično žensko novorođenče u kojega nalazimo u mirovanju simetrično položena oba usna kuta dok u plaču lijevi usni kut i lijeva polovica donje usnice zaostaju, parcijalnu sindaktiliju drugog i trećeg prsta oba stopala, otvoreni foramen ovale i ultrazvučno prikazane hiperehogene areale u talamusu i parenhimu mozga.Zbog upadljivog fenotipa, s ciljem diferencijalno-dijagnostičkog razjašnjenja etiopatogeneze asimetričnog plača novorođenčeta, odnosno udruženih minor malformacija, dijagnostičkom obradom nastojali smo dokazati, odnosno isključiti, mikrodelecijski sindrom, TORCH infekciju, odnosno porodnu traumu. Važnost prepoznavanja ove pareze odmah po porodu je u otkrivanju drugih povezanih anomalija, posebno kardiovaskularnih.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 38, no. 1, pp. 331-335
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:860802
Publication2014-03
Document URLhttps://hrcak.srce.hr/120920
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:17:28