dysostosis


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dys·os·to·sis

n. disostosis, desarrollo deficiente de los huesos y dientes.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Any craniofacial anomaly or syndrome such as Down syndrome, and cleidocranial dysostosis were excluded from this study.
The Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Klein (1) syndrome, is a rare syndrome transmitted in an autosomal dominant pattern characterized by the poor development of the supraorbital ridge, maxillary, zygomatic and mandibular hypoplasia and soft tissue of the face (2).
(12) Mucopolysaccharidosis is caused by the deficiency of one of those enzymes responsible for glycosaminoglycan degradation, resulting in subsequent GAG accumulation in several tissues leading to various pathological features including mental retardation, coarse face, short stature, dysostosis multiplex, corneal clouding, hepatosplenomegaly, and cardiac involvement.
He has scoliosis, dysostosis multiplex, mild mental retardation, waddling gait, height stunting and coarse face.
It is a progressive inborn error of metabolism which causes "growth retardation, skeletal abnormalities, changes in bones visible on X-rays (dysostosis multiplex), and some degree of intellectual disability," as defined by (https://rarediseases.org/rare-diseases/sly-syndrome/) RareDiseases.org , official website for the National Organization for Rare Disorders. 
This form includes fetal hydrous (or hydrops fetalis, a severe life-threatening edema in the fetus or newborn), abdominal hernias, ascites, coarse face, proteinuria, telangiectasia (abnormal dilation of the superficial capillaries, arterioles, or venules, typically localized immediately below the skin surface), skeletal dysplasia (dysostosis multiplex, stippled epiphyses, and osteoporosis), nephrotic syndrome, cardiac failure, neurological deficit, and ocular defects.
Those signs are diverse: coarse facial features, corneal clouding, opacification of the cornea, cherry-red macula, gingival hypertrophy, hepatosplenomegaly, skeletal dysostosis, vacuolated lymphocytes, and the psychomotor regression [5, 8].
Throughout most of the 20th century, the term Jarcho-Levin syndrome (JLS) was used to describe two disorders affecting the axial skeleton which are now recognized as distinct entities [2], spondylocostal dysostosis (SCD) and spondylothoracic dysplasia (STD).
Multiple supernumerary teeth may be associated with some syndromes or conditions such as Gardner's syndrome, cleidocranial dysostosis and cleft lip and palate (1, 2, 7).
Based on the clinical features (short stature, polydactyly, and orofacial abnormalities), the differential diagnoses of the McKusick Kauffman syndrome, Jeune dystrophy, and Weyers acrofacial dysostosis can be considered.