Naslov
Sensorineural deafness, dysmorphic face, omphalocele, hypoplasia of the corpus callosum, seizures and developmental delay: a new syndrome?

Autori
Barišić, Ingeborg ; Petković, Giorgie

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
The Third European-American School in Forensic Genetics and Mayo Clinic Course in Advanced Molecular and Cellular Medicine / Primorac D. ur. - Zagreb, 2003

Skup
The Third European-American School in Forensic Genetics and Mayo Clinic Course in Advanced Molecular and Cellular Medicine

Mjesto i datum
Zagreb, Hrvatska, 01.09.2003. - 05.09.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
sensorineural deafness; mental retardation; omphalocele; agenesis of corpus callosum

Sažetak
We report on a three and a half-year-old boy with multiple congenital anomaly-mental retardation syndrome characterized by profound sensorineural hearing loss, severe hypermetropia, omphalocele, bilateral ingunal hernia, hypoplasia of the corpus callosum, seizures and developmental delay. Distinctive facial features include wide forehead, high arched eyebrows, telecanthus, down-slanting palpebral fissures, high and prominent nasal bridge and submucosal cleft. High resolution karyotype and multicolor subtelomeric chromosome screening by fluorescent in situ hybridization showed normal results. A comprehensive review of syndromes with sensorineural deafness yielded no conclusive results, each being excluded on clinical or laboratory or cytogenetic grounds. Our patient shows some overlap with Donnai and Barrow and Malpuech syndromes. However, he is lacking some of the prominent symptoms of both conditions. Therefore we believe that his constellation of anomalies represents a distinct clinical entity.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA