Jarcho-Levin syndrome.
Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.
Kulkarni
M L
ML
Department of Pediatrics, JJM Medical College, Davangere, Karnataka, India. Sarfraz_navaz@yahoo.com
Navaz
Sarfaraz R
SR
Vani
H N
HN
Manjunath
K S
KS
Matani
Deepa
D
D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis*; D012272:Ribs / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities