Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

We report two brothers who presented with mandibulofacial dysostosis, growt h retardation, microcephaly, thoracic deformities and conductive hearing lo ss along with asplenia in one case and aplasia of the gallbladder in the ot her. The pattern of malformations differs significantly from established sy ndromes with mandibulofacial dysostosis such as Nager syndrome or Genee-Wie demann syndrome and also from cerebro-costo-mandibular syndrome. As chromos ome analysis revealed normal male karyotypes, we consider this to be a dist inct heritable syndrome that may be either autosomal recessive or X-chromos omal recessive.