title: A distinct skeletal dysplasia in an infant from consanguineous parents.
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*