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Radioulnar synostosis-microcephaly-scoliosis syndrome

Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.

Type A1 brachydactyly

Total: 1

(per page)

PMID (PMCID)
20358606	FEMALE	Infant, Newborn
	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
	Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroglu K, Devriendt K. Am J Med Genet A. 2010;152A(4):947-9.
	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.