![]() ![]() All but 1 of the patients had normal intellectual function. Other commonly seen features included fine hair, facial asymmetry, thick and/or bushy eyebrows, epicanthus, sandal gap, and wide big toes. Features seen in at least 28 (82%) of the 34 patients included a brachycephalic skull with hypoplasia of the frontal and parietal tubers and narrow forehead, long senile face with small features, small orbits, bilateral exophthalmos, hypoplastic cheekbones, straight nose with prominent glabella, long philtrum, thin lips, high voice with harsh timber, short neck, hypermobility of small joints, muscular hypotonia, and wide feet with high arch. ![]() In addition, all of the patients who underwent hematologic examination (22 patients from 21 families) had a high frequency of hypolobulation of granulocyte nuclei, characteristic of Pelger-Huet anomaly. (2010) ascertained 34 Yakut patients, 22 female and 12 male, all of whom had postnatal growth failure, loose and senile skin with depressed turgor of tissue, micromelia, brachydactyly, and bilateral optic nerve atrophy with nonprogressive loss of visual acuity, associated with complete or incomplete achromatopsia (color blindness). In the linguistically and geographically isolated Yakut population of northeastern Siberia, previously studied for the presence of autosomal dominant and recessive as well as X-linked recessive genetic diseases (Nogovitsina et al., 1999 Tarskaia et al., 2003 Tarskaia et al., 2004), Maksimova et al. (2010) designated the phenotype 'SOPH syndrome,' for short stature, optic atrophy, and Pelger-Huet anomaly. In the linguistically and geographically isolated Yakut population of northeastern Siberia, previously studied for the presence of autosomal dominant and recessive as well as X-linked recessive genetic diseases ( Nogovitsina et al., 1999 Tarskaia et al., 2003 Tarskaia et al., 2004), Maksimova et al. Optic nerve atrophy, bilateral ĭecreased visual acuity, nonprogressive Īchromatopsia, complete or incomplete ![]() Thick eyebrows īushy eyebrows Įxophthalmos, bilateral Įpicanthus ![]()
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