A newborn with Cornelia de Lange syndrome: a case report.
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs.
Uzun
Hakan
H
Department of Pediatrics, Duzce University School of Medicine, Duzce, Turkey. hakanuzun@duzce.edu.tr.
Senses
Dursun Ali
DA
Uluba
Munevver
M
Kocabay
Kenan
K