Teaching Case

Complains of painful feet and bilateral hallux varus deformity.

The patient was sent to the department with complaints of painful feet and bilateral hallux varus deformity. Clinical examination of the patient shows craniofacial dysmorphism with acrocephaly, brachycephaly, soft tissue syndactyly of fingers and toes and a tibial deviation of the great toes (hallus varus). At the time of presentation both clinical pictures and radiographs from the head and toes, taken at the age of 4 years are also available. Conventional radiographs of the feet and hands, taken at the occasion of the current presentation are shown in (fig. 2 B) and (fig. 3) respectively.

Pfeiffer’s syndrome: (familial acrocephalosyndactylia) is a genetical disorder with autosomal dominant inheritance, complete penetrance but very variable expressivity. There is a genetic heterogenicity with mutations of genes FGFR1 and FGFR2 (associated with the more severe forms of symphalangism). As described above, clinical and radiological manifestations include craniofacial dysmorphism, soft tissue syndactyly and bony symphalangism of fingers and toes, ulnar deviation of the thumbs and tibial deviation of the great toes. Other reported anomalies are mental retardation (when associated with hydrocephalus or Chiari malformation), cloverleaf skull, atresia of the external auditory canals with hearing loss, iris coloboma, scleralization of the cornea, cubitus valgus, talipes calcaneovarus, hypertrophic pyloric stenosis, imperforate anus and many others. Three subtypes are described: Type 1, as presented, is autosomal dominant and does not influence normal life expectancy. Types 2, with cloverleaf skull, severe ocular proptosis and elbow ankylosis and 3, with intestinal anomalies, are sporadic and early demise is inevitable. Pfeiffer’s syndrome represents the fifth type of craniosynostosis-syndactylia syndromes and is differentiated from Apert’s syndrome (1st type) by the lack of interdigital osseous fusions.