Denouement and Discussion
Major manifestations of spondylocostal dysplasia are vertebral and rib anomalies associated with shorttrunked dwarfism. There is no characteristic facial appearance, and the head size is normal. The neck is very short and broad with limitation of motion. There is an increase in the anteroposterior diameter of the chest. The trunk is short, and the upper limbs appear relatively long. On roentgenographic examination, multiple congenital anomalies of the vertebrae, including fusion, aplasia or hypoplasia, clefting, hemivertebrae, and excessive vertebrae, are present. There are also a variety of rib abnormalities, including hypoplasia and fusion. Back pain, limitation of motion of the spine, and nerve root compression may be associated with these congenital anomalies. Life span is usually normal. Differential diagnosis includes syndromes associated with segmentation abnormalities of the spine, such as spondylothoracic dysplasia.
Spondylocostal dysplasia seems to be inherited in an autosomal dominant manner.