[Spondylocostal dysostosis. An easily recognizable syndrome with a difficult genetic counselling (author's transl)].
A case with spondylocostal dysostosis is reported. Main clinical finding are: short stature, as a consequence of short neck and trunk, due to vertebral body abnormalities, along with abnormal ribs. The clinical aspects and the family history are suggestive of the autosomal recessive form of the disease. The Authors discuss the possibility of neonatal diagnosis of this syndrome and underline the difficulty to give the family a correct genetic counselling. The possibility of prenatal diagnosis is also reported.
D003241:Consanguinity; D004392:Dwarfism / Q000151:congenital*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome
Disostosi spondilo-costale. Una sindrome malformativa di facile diagnosi con difficile consultorio genetico.