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.
images in clinical medicineT h e ne w e ngl a nd jou r na l o f m e dicine n engl j med 371;16 nejm.org october 16, 2014 e23 A full-term baby girl, born to a 24-year-old woman (gravida 1) at 36 weeks of gestation, had choking, cyanosis, and seizures after the first feeding, 2 hours after birth. The mother had had preeclampsia and oligohydramnios during pregnancy. A tracheoesophageal fistula was identified in the infant (see video) and surgically corrected. The symptoms resolved, and the patient gained weight. She was discharged home 3 days after surgery.
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