Pterygolymphangiectasia syndrome

Introduction: Pterygolymphangiectasia syndrome

Description of Pterygolymphangiectasia syndrome

Pterygolymphangiectasia syndrome: A syndrome in which the affected patients have only 45 chromosomes, the loss of one of the X chromosomes producing an XO chromosome constitution. The syndrome occurs in 1/2500 female births and nearly 99% of XO fetuses are aborted. Gonadal agenesis and short stature are the main features in the surviving infants. Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications. Mental retardation is attributed to ring chromosome X. The phenotype varies and not all abnormalities occur in all patients.
Source: Diseases Database

Terms associated with Pterygolymphangiectasia syndrome:

Terms Similar to Pterygolymphangiectasia syndrome:

• XO syndrome
• Turner's syndrome
• Bonnevie-Ullrich syndrome

Source: Diseases Database

External links related to: Pterygolymphangiectasia syndrome

• Search Jablonski's Syndromes Database
• Turner syndrome
• eMedicine - Turner Syndrome : Article by Daniel Postellon, MD
• Morgagni-Turner-Albright syndrome (www.whonamedit.com)
• Bonnevie-Ullrich syndrome (www.whonamedit.com)
• Turner syndrome - Genetics Home Reference
• Recombinant growth hormone in children and adolescents with Turner syndrome (Cochrane Review)

Source: Diseases Database

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