Aarskog Syndrome | ScienceGate

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

Human Molecular Genetics ◽

10.1093/hmg/2.10.1717 ◽

1993 ◽

Vol 2 (10) ◽

pp. 1717-1718 ◽

Cited By ~ 16

Author(s):

Thomas W. Glover ◽

Vera Verga ◽

Jill Rafael ◽

Christine Barcroft ◽

Jerome L. Gorski ◽

...

Keyword(s):

Translocation Breakpoint ◽

Aarskog Syndrome

Download Full-text

The Aarskog syndrome in three brothers

Clinical Genetics ◽

10.1111/j.1399-0004.1974.tb00639.x ◽

2008 ◽

Vol 6 (2) ◽

pp. 119-124 ◽

Cited By ~ 20

Author(s):

Steve J. Funderburk ◽

Barbara F. Crandall

Keyword(s):

Aarskog Syndrome

Download Full-text

Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽

10.1542/peds.90.1.47 ◽

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.

Download Full-text