title: Extra phenotypic features in a girl with Miller syndrome.
abstract: A 4-year-old girl, the child of nonconsanguineous parents was referred for clinical assessment because of postaxial limb defects associated with mild facial dysmorphism. The overall phenotypic features were compatible with the Miller syndrome. The proband manifested distinctive bone defects, consisting of triangular-shaped terminal phalanges and cone-shaped epiphyses of the middle phalanges of the feet. Using the sequence analysis of the DHODH gene we identified compound heterozygous mutations in the proband. Furthermore, both the parents were found to be heterozygous carriers of one of the two mutations found in the proband. Interestingly, the father had a history of postaxial polydactyly. We speculated that the postaxial polydactyly in the father was either a heterozygote manifestation or is unrelated.
authors.affiliation: Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital Orthopaedic Hospital of Speising, Paediatric Department, Vienna Institute of Human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Katharina M
authors.initials: KM
authors.lastname: Roetzer
authors.forename: Peter
authors.initials: P
authors.lastname: Ulz
authors.forename: Ellen
authors.initials: E
authors.lastname: Heitzer
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D000090722:Dihydroorotate Dehydrogenase; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities; D006579:Heterozygote; D006801:Humans; D007867:Leg Bones / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis; D008844:Micrognathism / Q000175:diagnosis; D020125:Mutation, Missense; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D010641:Phenotype; D013131:Spine / Q000002:abnormalities; D050277:Toe Phalanges / Q000002:abnormalities
chemical_list: D000090722:Dihydroorotate Dehydrogenase; D044925:Oxidoreductases Acting on CH-CH Group Donors