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Alternative titles; symbolsPATTERSON-STEVENSON-FONTAINE SYNDROMEPatterson and Stevenson (1964) studied a father with the full syndrome and his son who had only t...

Alternative titles; symbols


Patterson and Stevenson (1964) studied a father with the full syndrome and his son who had only the split-foot deformity. Fontaine et al. (1974) described a family in which ectrodactyly and mandibulofacial dysostosis were associated. The ectrodactyly was limited to the feet and was associated with syndactyly of some toes. The mandibulofacial dysostosis consisted of retrognathism, complete or occult posterior cleft palate, and anomalies of the outer ear which was misshapen. Four persons in 3 generations were affected. Wilkie and Goodacre (1997) provided follow-up on the 'son' reported by Patterson and Stevenson (1964) and found that 1 of his 3 sons had inherited the same condition. Thus the original family had affected individuals in 3 generations. The 'son' was described as having a normal craniofacial appearance in the original report; however, he required considerable orthodontic treatment as a child and as an adult showed moderate malar hypoplasia and microretrognathia. His hands were normal clinically. A photograph of his feet showing a split-foot deformity on the left was provided. His son, the affected member of a third generation, had unusual formation of both external ears noted at birth. Auditory evoked potentials at the age of 2 months showed a 70 decibel sensorineural hearing loss bilaterally and he was fitted with hearing aids. He showed microretrognathia and his hands and feet were normal. Although the member of the third generation did not have acrodactyly, his craniofacial appearance and audiologic abnormalities indicated that he had inherited the condition.

See mandibulofacial dysostosis with limb anomalies, or Nager syndrome (154400).

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