Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Al Kaissi, A; M Roetzer, K; Ulz, P; Heitzer, E; Klaushofer, K; Grill, F.
Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol. 2011; 20(2): 66-72.
Doi: 10.1097/MCD.0b013e3283416701
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- Co-Autor*innen der Med Uni Graz
- Heitzer Ellen
- Rötzer Katharina Magdalena
- Ulz Peter
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - diagnosis
- Child, Preschool -
- Female -
- Finger Phalanges - abnormalities
- Heterozygote -
- Humans -
- Leg Bones - abnormalities
- Limb Deformities, Congenital - diagnosis
- Mandibulofacial Dysostosis - diagnosis
- Micrognathism - diagnosis
- Mutation, Missense -
- Oxidoreductases Acting on CH-CH Group Donors - genetics
- Phenotype -
- Spine - abnormalities
- Toe Phalanges - abnormalities
- Find related publications in this database (Keywords)
- brachydactyly
- cone-shaped epiphyses
- DHODH gene
- Miller syndrome
- triangular-shaped terminal phalanges