Langer-Saldino achondrogenesis

Langer-Saldino achondrogenesis is a rare fatal type of dwarfism. Infants with this disorder have short arms and legs, a small chest with short ribs, and underdeveloped lungs. The skull bones may be soft, but they often appear normal on X-ray images. In contrast, bones in the spine (vertebrae) and pelvis do not harden, or ossify. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (cleft palate). The abdomen is enlarged, and excess fluid builds up in the body before birth (a condition called hydrops fetalis). Infants with this disease are usually premature and stillborn or die shortly after birth from respiratory failure. Some infants have lived for a time, however, with intensive medical support.