Results 1 - 3 of 3 for Lethal congenital contracture syndrome 1
  1. ... chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third ...
  2. ... proximal spinal muscular atrophy with contractures Kugelberg-Welander syndrome, autosomal ... dominant Autosomal dominant spinal muscular atrophy, lower ...
  3. ... P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15; ...