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Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol. 2011 Apr; 20(2):66-72.CD

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+Show Affiliations

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.atNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21346561

Citation

Al Kaissi, Ali, et al. "Extra Phenotypic Features in a Girl With Miller Syndrome." Clinical Dysmorphology, vol. 20, no. 2, 2011, pp. 66-72.
Al Kaissi A, Roetzer KM, Ulz P, et al. Extra phenotypic features in a girl with Miller syndrome. Clin Dysmorphol. 2011;20(2):66-72.
Al Kaissi, A., Roetzer, K. M., Ulz, P., Heitzer, E., Klaushofer, K., & Grill, F. (2011). Extra phenotypic features in a girl with Miller syndrome. Clinical Dysmorphology, 20(2), 66-72. https://doi.org/10.1097/MCD.0b013e3283416701
Al Kaissi A, et al. Extra Phenotypic Features in a Girl With Miller Syndrome. Clin Dysmorphol. 2011;20(2):66-72. PubMed PMID: 21346561.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Extra phenotypic features in a girl with Miller syndrome. AU - Al Kaissi,Ali, AU - Roetzer,Katharina M, AU - Ulz,Peter, AU - Heitzer,Ellen, AU - Klaushofer,Klaus, AU - Grill,Franz, PY - 2011/2/25/entrez PY - 2011/2/25/pubmed PY - 2011/6/28/medline SP - 66 EP - 72 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 20 IS - 2 N2 - 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. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/21346561/Extra_phenotypic_features_in_a_girl_with_Miller_syndrome_ L2 - http://dx.doi.org/10.1097/MCD.0b013e3283416701 DB - PRIME DP - Unbound Medicine ER -