Cornelia de Lange syndrome.
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. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects.
Department of Paediatrics, Civil Hospital, Dow University of Health Sciences, Karachi.
Nida
N
Noor
Zehra
Z
Kazmi
Ayesha
A
Mehnaz
D003635:De Lange Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male