Thanatophoric Dwarfism II

1973 ◽  
Vol 1 (1) ◽  
pp. 8-11 ◽  
Author(s):  
K. E. Goard ◽  
K. Kozlowski
Keyword(s):  
Thanatophoric Dwarfism

THANATOPHORIC DWARFISM IN UTERO

1971 ◽  
Vol 112 (1) ◽  
pp. 198-200 ◽  
Author(s):  
ROBERT E. CAMPBELL
Keyword(s):  
In Utero ◽  
Thanatophoric Dwarfism

THE GENETICS OF THANATOPHORIC DWARFISM

PEDIATRICS ◽  
1973 ◽  
Vol 51 (1) ◽  
pp. 104-109
Author(s):  
Sergio Danilo Junho Pena ◽  
Harold O. Goodman
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recurrence Risk ◽  
Recessive Inheritance ◽  
Review Of The Literature ◽  
Marked Contrast ◽  
Thanatophoric Dwarfism ◽  
Genetic Mechanisms ◽  
Sporadic Cases

Two cases of thanatophoric dwarfism are presented with guidelines for diagnosis. A review of the literature is made, and from that, a discussion of possible genetic mechanisms is made. Although data favor a polygenic mechanism at the present time, it is possible that some cases are due to autosomal recessive inheritance. An empiric recurrence risk of 1:50 is suggested by cases published to date. This is in marked contrast to the small recurrence risk for sporadic cases of classical achondroplasia and the importance of differentiation between these two entities cannot be overemphasized.

Sonographic diagnosis of thanatophoric dwarfism in utero.

1982 ◽  
Vol 1 (8) ◽  
pp. 337-339 ◽  
Author(s):  
I J Fink ◽  
R A Filly ◽  
P W Callen ◽  
C C Fiske
Keyword(s):  
In Utero ◽  
Sonographic Diagnosis ◽  
Thanatophoric Dwarfism

Thanatophoric Dwarfism

1977 ◽  
Vol 16 (8) ◽  
pp. 690-697 ◽  
Author(s):  
Mark Nissenbaum ◽  
Stanley M. K. Chung ◽  
Henrietta K. Rosenberg ◽  
Billy E. Buck
Keyword(s):  
Thanatophoric Dwarfism

Thanatophoric dwarfism

2015 ◽  
pp. 238-242
Author(s):  
Vinayaka P ◽  
Nagendra K ◽  
Pradeep N ◽  
Sudha Rudrappa
Keyword(s):  
Thanatophoric Dwarfism

Obstetric features of thanatophoric dwarfism

1971 ◽  
Vol 109 (3) ◽  
pp. 396-401 ◽  
Author(s):  
Bruce H. Thompson ◽  
Tim H. Parmley
Keyword(s):  
Thanatophoric Dwarfism

scholarly journals 1220 THANATOPHORIC DWARFISM AND THE CLOVERLEAF SKULL

1981 ◽  
Vol 15 ◽  
pp. 646-646
Author(s):  
Annemarie Sommer ◽  
Arthur J Vaughn ◽  
Stella B Kontras
Keyword(s):  
Cloverleaf Skull ◽  
Thanatophoric Dwarfism
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