Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-
Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head.
Many classifications have been suggested; classically they were based on pattern of involvement. Newer classifications are more often based on aetiology, i.e. genetic defects, abnormal proteins or enzymes.

Case :
We describe the case of an 11-years-old female, first child of healthy unrelated parents. She was born at term after a normal pregnancy. Her birth weight was 3,350 kg (50th percentile), her length was 50 cm (50th percentile) and occipitofrontal circumference was 38 cm (> 90th percentile). No perinatal diseases were referred. During the following years she developed macrocrania with a slow height velocity....