释义 |
Hunter-Thompson dwarfism Hun·ter-Thomp·son dwarfism (hŭn'tĕr tom'sŏn), [MIM*201250] a severe form of acromesomelic dwarfism, characterized by shortening of the distal segments of the limbs; lower extremities are more severely affected than the upper limbs; often associated with dislocations of elbows, knees, and hips. Autosomal recessive inheritance, caused by mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene on chromosome 20q.Hunt·er-Thomp·son dwarf·ism (hŭn'tĕr-tomp'sŏn dwōrf'izm) A severe form of acromesomelic dwarfism, characterized by shortening of the distal segments of the limbs; the lower limbs are more severely affected than the upper limbs; often associated with dislocations of elbows, knees, and hips. Autosomal recessive inheritance, caused by mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene on chromosome 20q. |