Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Bron, France. In Pediatr Radiol, Jul 2015
Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis.
A long-term evaluation of 150 costochondral nasal grafts.
Bristol, United Kingdom. In J Plast Reconstr Aesthet Surg, 2013
46% of the patients were diagnosed with Binder syndrome/Chondrodysplasia punctata; other diagnoses included Tessier midline clefts, cleft lip and palate and frontonasal dysplasia.