Genomic coordinate 9:35,791,591
Here I present: “Maroteaux–Acromesomelic Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (NPRB) 馬羅托-頂體發育不良。icd10=Q77.8
INTRODUCTION.
Acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements’, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.
Maroteaux-acromesomelic dysplasia is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal.
There is evidence that Maroteaux-acromesomelic dysplasia, is caused by homozygous or compound heterozygous mutation in the natriuretic-peptide receptor-B (NPRB) gene encoded on cytogenetic location 9p13.3 and genomic coordinate 9:35,791,591.
NOTE: Cytogenetic location 9p13.3 is genomic coordinates 9:33,200,001-36,300,000.
