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To the best of our knowledge a similar case of caesarean delivery in a patient with pycnodysostosis has not previously been described in the English literature.
Difficulties with airway management in patients with pycnodysostosis have previously been described in the literature [10,11].
Characteristic features of the spine in pycnodysostosis are scoliosis, kyphosis, and lumbar hyperlordosis [14].
To date 34 mutations in CTSK have been reported in 59 families with pycnodysostosis (Schilling et al., 2007; Naeem et al., 2009; Li et al., 2009; Osimani et al., 2010).
The candidate gene for pycnodysostosis CTSK, was amplified by designing specific primers (Supplementary Table II) with "Exon primer" (Human Genome Browser (UCSC)) for all coding exons of CTSK (NM_000396.2).
A rare bone disorder pycnodysostosis was diagnosed by the Paediatrician and Radiologist At the hospital.
Desnick, "Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping," Nature Genetics, vol.
Rizk, "Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy," Metabolism, vol.
Santolaya, "Maxillofacial alterations in a family with pycnodysostosis," Medicina Oral, vol.
Pycnodysostosis is a rare inherited disorder, with an incidence estimated to be 1.7 per million births.
Pycnodysostosis is an autosomal recessive disease (1-6) characterised by systemic osteosclerosis owing to decreased bone turnover.
(2) Cognitive functioning and life expectancy for pycnodysostosis sufferers is normal.