scholarly journals An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

1995 ◽  
Vol 96 (4) ◽  
Author(s):  
N.German Pasteris ◽  
JeromeL. Gorski
Keyword(s):  
Taqi Polymorphism ◽  
Aarskog Syndrome ◽  
Faciogenital Dysplasia

Genomic Organization of the Faciogenital Dysplasia (FGD1; Aarskog Syndrome) Gene

Genomics ◽  
1997 ◽  
Vol 43 (3) ◽  
pp. 390-394 ◽  
Author(s):  
N.German Pasteris ◽  
Joshua Buckler ◽  
Amy B. Cadle ◽  
Jerome L. Gorski
Keyword(s):  
Genomic Organization ◽  
Aarskog Syndrome ◽  
Faciogenital Dysplasia

Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue

Gene ◽  
2000 ◽  
Vol 242 (1-2) ◽  
pp. 237-247 ◽  
Author(s):  
N.German Pasteris ◽  
Koh-ichi Nagata ◽  
Alan Hall ◽  
Jerome L. Gorski
Keyword(s):  
Aarskog Syndrome ◽  
Gene Homologue ◽  
Faciogenital Dysplasia

Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia)

1994 ◽  
Vol 15 (1) ◽  
pp. 37-40 ◽  
Author(s):  
Helga F. Pizio ◽  
Mark H. Scott ◽  
James M. Richard ◽  
Dean A. McGee
Keyword(s):  
Retinal Vessels ◽  
Aarskog Syndrome ◽  
Faciogenital Dysplasia

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

1993 ◽  
Vol 2 (10) ◽  
pp. 1717-1718 ◽  
Author(s):  
Thomas W. Glover ◽  
Vera Verga ◽  
Jill Rafael ◽  
Christine Barcroft ◽  
Jerome L. Gorski ◽  
...  
Keyword(s):  
Translocation Breakpoint ◽  
Aarskog Syndrome

The Aarskog syndrome in three brothers

2008 ◽  
Vol 6 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Steve J. Funderburk ◽  
Barbara F. Crandall
Keyword(s):  
Aarskog Syndrome

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Gestational Age ◽  
Normal Values ◽  
The Other ◽  
Male And Female ◽  
Rieger Syndrome ◽  
Neonatal Diagnosis ◽  
Robinow Syndrome ◽  
Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

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