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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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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.
20635354	FEMALE	Infant, Newborn
	Giuffre-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
	Dalal AB, Sarkar A, Priya TP, Nandineni MR. Am J Med Genet A. 2010;152A(8):2057-60.
	We report on a girl with Giuffre-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis.