Kyphomelic dysplasia

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in in...

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Veröffentlicht in:	Journal of medical genetics 1989-07, Vol.26 (7), p.457-461
Hauptverfasser:	Temple, I K, Thompson, E M, Hall, C M, Bridgeman, G, Pembrey, M E
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Bone Diseases, Developmental - psychology Bone dysplasia Child, Preschool Cleft lip/palate Diseases of the osteoarticular system Femur - abnormalities Femur - diagnostic imaging Gait Humans Infant Infant, Newborn Intellectual development Intelligence Long bone Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Pelvis - abnormalities Pelvis - diagnostic imaging Radiography Research Article Ribs - abnormalities Ribs - diagnostic imaging Syndrome Thorax
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Beschreibung
Zusammenfassung:	A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.26.7.457