Kaveggia's syndrome

Alternative eponyms

Related people

A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies.

Description

A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies. Etiology uncertain. Possibly autosomal recessive inheritance, but it may be a new autosomal dominant mutation.

Bibliography

  • E. G. Kaveggia, G. Neuhäuser, J. M. Opitz:
    Studies of malformation syndromes of man XXXVIII: The BD syndrome, A "new" multiple congenital anomalies/mental retarding syndrome with athetoid cerebral palsy.
    Zeitschrift für Kinderheilkunde, Berlin, 1975, 120: 191-198.

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