6533b828fe1ef96bd1288ddf

RESEARCH PRODUCT

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Jürgen W. SprangerH. MengerM. Rittler

subject

musculoskeletal diseasesMaleChondrodysplasia PunctataAdolescentLimb Deformities CongenitalMetacarpal bonesShort staturemedicineHumansChondrodysplasia punctataAbnormalities MultipleTibiaChildGenetics (clinical)NoseShort tibiaTibiabusiness.industryInfant NewbornInfantAnatomymusculoskeletal systemmedicine.diseaseOsteochondrodysplasiamedicine.anatomical_structureShort limbsChild PreschoolFaceFemalemedicine.symptomMetacarpusbusiness

description

We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.

yearjournalcountryeditionlanguage
1990-10-01American journal of medical genetics
10.1002/ajmg.1320370208https://pubmed.ncbi.nlm.nih.gov/2248286