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Ulbright–Hodes syndrome : ウィキペディア英語版
Renal dysplasia-limb defects syndrome

Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder.〔(【引用サイトリンク】title=RL syndrome at Wrongdiagnosis.com )〕 It has been described in three infants, all of whom died shortly after birth.〔(【引用サイトリンク】title=ORPHANET - About rare diseases - Ulbright-Hodes syndrome )
==Characteristics==
RL syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion (joining of radius and humerus), rib abnormalities, anomalies of the external genitalia and potter-like facies among many others.〔〔(【引用サイトリンク】title=ORPHANET - More on Ulbright-Hodes syndrome )

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Renal dysplasia-limb defects syndrome」の詳細全文を読む



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