Thanatophoric Dwarfism and Cloverleaf Skull (“Kleeblattschädel”)

Radiology ◽  
1973 ◽  
Vol 106 (2) ◽  
pp. 401-405 ◽  
Author(s):  
Ruperto S. Young ◽  
Rubem Pochaczevsky ◽  
John C. Leonidas ◽  
Irving B. Wexler ◽  
Harold Ratner
Keyword(s):  
Cloverleaf Skull ◽  
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

scholarly journals Cloverleaf skull and thanatophoric dwarfism: Report of four cases, two in the same sibship

1971 ◽  
Vol 46 (249) ◽  
pp. 656-664 ◽  
Author(s):  
M. W. Partington ◽  
F. Gonzales-Crussi ◽  
S. G. Khakee ◽  
D. G. Wollin
Keyword(s):  
Cloverleaf Skull ◽  
Thanatophoric Dwarfism

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

THANATOPHORIC DWARFISM IN UTERO

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

Thanatophoric dysplasia with cloverleaf-skull

1982 ◽  
Vol 139 (4) ◽  
pp. 298-303 ◽  
Author(s):  
B. Kremens ◽  
H. Kemperdick ◽  
F. Borchard ◽  
U. G. Liebert
Keyword(s):  
Thanatophoric Dysplasia ◽  
Cloverleaf Skull

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.

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