A genome wide association study and fine mapping for Chondrodysplasia
of Texel sheep.
Cartilage hair hypoplasia/metaphyseal chondrodysplasia
Charlotte had rhizomelic chondrodysplasia
punctata (RCP) - a rare condition that causes short limbs, bone abnormalities and restricted growth.
However, for Refsum disease, the total clinical picture is required because phytanic acid also accumulates in persons with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia
punctata type 1 (26).
What few people realize, however, is that rates at the high end are confined to chondrodysplasia
punctata, the most common manifestation of warfarin embryopathy.
The surgeons operated on a 13-year-old patient with a condition called chondrodysplasia
punctata, a disorder of cartilage and bone development.
Cystic transformation of the pancreas has also been described in a variety of congenital syndromes (187) including Ivemark syndrome, trisomy 13 or 15, Meckel-Gruber syndrome, Elejalde syndrome, glutaric aciduria, chondrodysplasia
, short-rib polydactyly syndrome (Jeune syndrome and Saldino-Noonan type), (188) and others with no specific name.