RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. [ncbi.nlm.nih.gov]

We identified a duplication of the long arm of chromosome 8 (8q12) with SNP-array. This is the third case of a patient with common clinical features and 8q12 duplication described in the literature. [ncbi.nlm.nih.gov]

Her mother had similar retinal pigment epithelial abnormalities. [ncbi.nlm.nih.gov]

The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. [ncbi.nlm.nih.gov]

RESULTS: Among the 17 patients with DRS, 15 demonstrated normal hearing according to pure tone audiogram. [ncbi.nlm.nih.gov]

RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome. RESULTS: No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. [ncbi.nlm.nih.gov]