Craniometaphyseal dysplasia ‐variability of expression within a large family

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Abstract
In 5 generations of a South African/English family 15 members had the autosomal dominant form of craniometaphyseal dysplasia [CMD]. The majority of affected adults had mild to moderate mandibular distortion, while paranasal bossing was a transient manifestation in childhood. Facial palsy with onset in childhood was present either unilaterally or bilaterally in about 30% of the patients, while 50% had auditory dysfunction which varied from mild impairment of hearing to total deafness. Stature and intellect were normal, and bone fragility, osteomyelitis and dyshemopoiesis were not features of the condition. Five other potentially affected family members had deafness or facial palsy of uncertain etiology in the absence of other stigmata of CMD. It is uncertain whether these complications represent minor degrees of phenotypic expression of the abnormal gene.

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