Shin-Young Yim

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Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several(More)
This study was designed to establish norms of hand function, and to identify developmental characteristics of hand function among the Korean children. 712 elementary school children participated in measurement of grip strength, three kinds of pinch strength, and dexterity. The hand strength of the Korean children appeared to be weaker than that of western(More)
Congenital muscular torticollis (CMT) is characterized by thickening and/or tightness of the unilateral sternocleidomastoid muscle (SCM), ending up with torticollis. Our aim was to identify differentially expressed genes (DEGs) and novel protein interaction network modules of CMT, and to discover the relationship between gene expressions and clinical(More)
OBJECTIVE (1) To present the magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) of subjects who underwent surgical release and subjects who showed a good prognosis with stretching exercises and (2) to correlate the MRI findings with the histopathologic findings of CMT for subjects who underwent surgical release in order to(More)
OBJECTIVE To examine whether the thickness of the sternocleidomastoid muscle (SCM) could be used as a prognostic factor for congenital muscular torticollis (CMT). METHOD This was a retrospective study conducted in a pediatric rehabilitation service at a tertiary medical center. Fifty-two children who met the following inclusion criteria were included: 1)(More)
OBJECTIVE To compare the clinical severity of congenital muscular torticollis (CMT) based on the method of child birth. METHOD Children diagnosed with CMT and who were < 6-years-of-age at the time of their first visit at the Center for Torticollis, Ajou Medical Center, were included in this study. The medical records were retrospectively reviewed with(More)
PURPOSE This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND METHODS We collected clinical and cytogenetic data based on(More)
OBJECTIVE To compare effectiveness on correcting cranial and ear asymmetry between helmet therapy and counter positioning for deformational plagiocephaly (DP). METHODS Retrospective data of children diagnosed with DP who visited our clinic from November 2010 to October 2012 were reviewed. Subjects ≤10 months of age who showed ≥10 mm of diagonal difference(More)
The purposes of this study were to present DNA analysis findings of our case series of fragile X syndrome (FXS) based on methylation-specific polymerase chain reaction (MS-PCR), PCR, and Southern blotting alongside developmental characteristics including psychological profiles and to review the literature on FXS in Korea. The reports of 65 children(More)
OBJECTIVE To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT). METHODS Preoperative craniofacial asymmetry was measured by 3D-CT for 31 CMT subjects ≥18 years of age who visited a tertiary medical center and(More)