title: Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.
abstract: Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A (also called SMC1L1) and SMC3 have been suggested as probable cause of this syndrome. We experienced a case of newborn with CdLS showing bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft palate, micrognathia, excessive body hair, micromelia of both hands, flexion contracture of elbows and hypertonicity. We detected a NIPBL gene mutation in a present neonate with CdLS, the first report in Korea.
authors.affiliation: Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Park
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Shin-Yun
authors.initials: SY
authors.lastname: Byun
mesh_terms: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D018388:Codon, Terminator; D003635:De Lange Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D018388:Codon, Terminator; C487465:NIPBL protein, human; D011506:Proteins