The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

2007 ◽  
Vol 143A (12) ◽  
pp. 1268-1281 ◽  
Author(s):  
David Chitayat ◽  
Hana Sroka ◽  
Sarah Keating ◽  
Randall S. Colby ◽  
Greg Ryan ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Inheritance ◽  
Living Child ◽  
Recessive Inheritance ◽  
Cardiac Defect ◽  
Syndrome Report

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

2007 ◽  
Vol 143A (3) ◽  
pp. 219-228 ◽  
Author(s):  
Jelena Martinovic-Bouriel ◽  
Céline Bernabé-Dupont ◽  
Christelle Golzio ◽  
Bettina Grattagliano-Bessières ◽  
Valérie Malan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Syndrome Report

Gershoni-Baruch syndrome: Report of a new family confirming autosomal recessive inheritance

2003 ◽  
Vol 122A (2) ◽  
pp. 174-179 ◽  
Author(s):  
P. Franceschini ◽  
A. Guala ◽  
D. Licata ◽  
G. Botta ◽  
F. Flora ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
New Family ◽  
Syndrome Report

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

1997 ◽  
Vol 68 (4) ◽  
pp. 441-444 ◽  
Author(s):  
Karen W. Gripp ◽  
Dian Donnai ◽  
Carol L. Clericuzio ◽  
Donna M. McDonald-McGinn ◽  
Marta Guttenberg ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

Lethal Forms of Chondrodysplastic Dwarfism

PEDIATRICS ◽  
1974 ◽  
Vol 53 (1) ◽  
pp. 76-85
Author(s):  
John P. Curran ◽  
Becky A. Sigmon ◽  
John M. Opitz
Keyword(s):  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Early Death ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Present Evidence ◽  
Live Births ◽  
Skeletal Dysplasias ◽  
Thanatophoric Dwarfism ◽  
Genetic Features

Thanatophoric dwarfism and achondrogenesis are lethal forms of skeletal dysplasia with clinical, radiographic, and genetic features distinct from classic achondroplasia. Both of these forms of lethal chondrodystrophy continue to be mistaken for achondroplasia, with serious genetic implications, since present evidence suggests that at least achondrogenesis is the result of autosomal recessive inheritance. This report presents the clinical, radiographic, and autopsy findings in three short-limbed infants who died soon after birth. Early death is due to respiratory insufficiency secondary to severe pulmonary hypoplasia and, in one case, dysplasia of the tracheal rings. The incidence of lethal chondrodystrophies is about one in 19,000 live births. It is suggested that the differential diagnosis between thanatophoric dwarfism and achondrogenesis can be established unequivocally on radiographic grounds, as can the differentiation of these two lethal skeletal dysplasias from classic achondroplasia. It is important for proper genetic counseling that these distinctions be made.

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