Two different mutations within the same sibship: thanatophoric dwarfism and ullrich-feichtiger syndrome.
D000130:Achondroplasia / Q000175:diagnosis; D001921:Brain / Q000002:abnormalities; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000150:complications*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D004426:Ear Deformities, Acquired / Q000150:complications; D004838:Epiphyses / Q000473:pathology; D005121:Extremities / Q000000981:diagnostic imaging; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008032:Limbic System / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000150:complications*; D008844:Micrognathism / Q000150:complications*; D008850:Microphthalmos / Q000150:complications*; D010375:Pedigree; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D013702:Temporal Lobe / Q000002:abnormalities