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.

Scoliosis

The presence of an abnormal lateral curvature of the spine.


合計: 2

                       


（表示件数）
PMID (PMCID)
22786695
 MIXED_SAMPLE Child
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of Giuffre-Tsukahara syndrome?
Zhu Y, Jin K, Mei H, Li L, Liu Z, Yang Y, Tang J, He X, Zhao R, He X.
Am J Med Genet A. 2012;158A(8):2036-42.
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of Giuffre-Tsukahara syndrome?
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.