Lipodystrophy - intellectual deficit - deafness (Q60113): Difference between revisions

Lipodystrophy - intellectual deficit - deafness is characterised by the association of generalised congenital lipodystrophy, progressive sensorineural deafness in early childhood, intellectual deficit, and skeletal manifestations characterised by slender, undermineralized tubular bones with a tendency for fractures in adolescence, delayed skeletal maturation, and late-onset dense metaphyseal striations.