dysostosis


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dys·os·to·sis

n. disostosis, desarrollo deficiente de los huesos y dientes.
References in periodicals archive ?
The PCR was performed by amplifying 50-100 ng of genomic DNA in a Human genes: FGFR2, fibroblast growth factor receptor 2 (bacteriaexpressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome); FGFR3, fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism); TWISTI, twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila); MSX2, rush homeobox 2; EFNBI, ephrin-B1; ALPL, alkaline phosphatase, liver/bone/kidney.
Husler coined the term dysostosis multiplex to describe the skeletal findings.
12] Human genes: SNRPN, small nuclear ribonucleoprotein polypeptide N; DMD, dystrophin (muscular dystrophy, Duchenne and Becker types); FGFR2, fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome); KRIT1, KRIT1, ankyrin repeat containing.
Condylar agenesis is associated with congenital syndromes, such as otomandibular dysostosis, hemifacial microsomia, and mandibulofacial dysostosis.
org 1,2,9 Spanish/Italian materials MANDIBULOFACIAL DYSOSTOSIS See: Nager & Miller Syndromes; Treacher Collins Syndrome MANNOSIDOSIS See: Tay-Sachs Disease MAPLE SYRUP URINE DISEASE See also: Metabolic Disorders Maple Syrup Urine Disease Family Support Group Joyce Brubacher 24806 SR119 Goshen, IN 46526 (574) 862-2992 * msud-support@ characterlink.
Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency and neutropenia, as well as metaphyseal dysostosis in slightly less than half the cases.