TY - JOUR
T1 - The Jansen type of metaphyseal chondrodysplasia
T2 - Confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult
AU - Charrow, Joel
AU - Poznanski, Andrew K
PY - 1984/1/1
Y1 - 1984/1/1
N2 - We describe a mother and infant girl with the Jansen type of metaphyseal chondrodysplasia. The transmission of the syndrome from mother to daughter in this family establishes this as a dominant condition. Characteristic radiographic manifestations of the disorder were obvious at birth. The mother and infant illustrate the two extremes of age where the radiographic manifestations are less characteristic than in middle childhood, since the marked metaphyseal calcifications are absent.
AB - We describe a mother and infant girl with the Jansen type of metaphyseal chondrodysplasia. The transmission of the syndrome from mother to daughter in this family establishes this as a dominant condition. Characteristic radiographic manifestations of the disorder were obvious at birth. The mother and infant illustrate the two extremes of age where the radiographic manifestations are less characteristic than in middle childhood, since the marked metaphyseal calcifications are absent.
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U2 - 10.1002/ajmg.1320180216
DO - 10.1002/ajmg.1320180216
M3 - Article
C2 - 6331768
AN - SCOPUS:0021244473
VL - 18
SP - 321
EP - 327
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -