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Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
Clin Dysmorphol. 2003 Jul; 12(3):161-5.CD

Abstract

The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.

Authors+Show Affiliations

University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary. emorava@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

14564152

Citation

Morava, Eva, et al. "Ulnar/fibular Ray Defect and Brachydactyly in a Family: a Possible New Autosomal Dominant Syndrome." Clinical Dysmorphology, vol. 12, no. 3, 2003, pp. 161-5.
Morava E, Czakó M, Kárteszi J, et al. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Clin Dysmorphol. 2003;12(3):161-5.
Morava, E., Czakó, M., Kárteszi, J., Cser, B., Weissbecker, K., & Méhes, K. (2003). Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Clinical Dysmorphology, 12(3), 161-5.
Morava E, et al. Ulnar/fibular Ray Defect and Brachydactyly in a Family: a Possible New Autosomal Dominant Syndrome. Clin Dysmorphol. 2003;12(3):161-5. PubMed PMID: 14564152.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. AU - Morava,Eva, AU - Czakó,Marta, AU - Kárteszi,Judit, AU - Cser,Beatrix, AU - Weissbecker,Karen, AU - Méhes,Karoly, PY - 2003/10/18/pubmed PY - 2004/3/17/medline PY - 2003/10/18/entrez SP - 161 EP - 5 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 12 IS - 3 N2 - The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome. SN - 0962-8827 UR - https://wwww.unboundmedicine.com/medline/citation/14564152/Ulnar/fibular_ray_defect_and_brachydactyly_in_a_family:_a_possible_new_autosomal_dominant_syndrome_ L2 - https://doi.org/10.1097/01.mcd.0000072164.33788.0a DB - PRIME DP - Unbound Medicine ER -