Pterygia associated with otomandibular anomalies: a new autosomal recessive condition?

We report a male baby with an unusual pattern of malformations comprising severe micrognathia, ear abnormalities and popliteal and elbow webbing. Absence of a single phalanx in the fifth finger of each hand was also noted. Although there is no clear diagnosis there is a history of parental consanguinity and we suggest this may represent a new autosomal recessive disorder.