The several varieties of multiple epiphyseal dysplasia congenita have in common a stippling of the epiphyses. Bailey classified the syndromes into six clinical types in order of increasing severity of involvement. The case reported here fits into the Type 4 syndrome. Her mother had certain features of the syndrome, which suggests a genetic basis for the disease. Both subjects had anisomelia, congenital kyphoscoliosis, short stature, and short humeri. The daughter had skin changes that were also present in the mother and were reported only once previously. Neither mother nor daughter had a saddle nose, and the mother did not show the stippling that roentgenographically characterizes all six types of multiple epiphyseal dysplasia, although it has been suggested that the stippling present in childhood may disappear later in life.
ASJC Scopus subject areas
- Orthopedics and Sports Medicine