Search

  • HOME
  • Search
Case Report
A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome
Su Jin Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2001;44(9):1047-1051.   Published online September 15, 2001
Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973...