Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome

Abstract

Five patients from three families have a new genetic syndrome. The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the distal phalanx and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant facial dysmorphism with sparse hair, peculiar ears, severe micrognathism, and retracted and poorly delineated lips. The existence of consanguinity in two of the families, both with two affected siblings, as well as the lack of sex predilection, allow us to postulate that this syndrome is inherited in a recessive manner.