A syndrome evident from birth or within third year of age, affecting both sexes. Physical features include slow growth eventually determining a mild disproportionate dwarfism with short limbs, and head larger than rest of body; small but normal hands and feet, and joint relaxation. Leg bowing is less frequent than in achondroplasia. Other features include mild motor delay and mental deficiency with intelligence in the area of 50 to 80 points. Behavioural problem common. The affected child, born about 47 cm tall and weighing about 2,9 kilogram, reaches a final height (ca.) of 127 to 152 cm. Autosomal dominant inheritance with complete penetrance.
- F. Ravenna:
Achondroplassia et chondrohypoplasie. Contribution clinique.
Nouvelle iconographie de la Salpêtrière, 1913, 26: 157-184.