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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Yutaka NegishiDaisuke IedaIkumi HoriYasuyuki NozakiTakanori YamagataHirofumi KomakiJun TohyamaKeisuke NagasakiHiroko TadaShinji Saitoh
Published in: Orphanet journal of rare diseases (2019)
SYS can be present in infants suspected with PWS but some unique features, such as arthrogryposis, can help discriminate between the two syndromes. An episode of neurological deterioration following febrile illness should be recognized as an important complication.
Keyphrases
  • case report
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