Larsen syndrome--lethal variety.
Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed.
Kulkarni
M L
ML
Department of Pediatrics, JJM Medical College, Davangere, Karnataka, India.
Mohammed
Zaheeruddin
Z
Kulkarni
Preethi M
PM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003095:Collagen Diseases / Q000151:congenital*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital*; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008297:Male; D013577:Syndrome