Ulnar/fibular ray defect and brachydactyly in a family: A possible new autosomal dominant syndrome

Éva Morava, Marta Czakó, Judit Kárteszi, Beatrix Cser, Karen Weissbecker, Karoly Méhes

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)161-165
Number of pages5
JournalClinical Dysmorphology
Volume12
Issue number3
DOIs
StatePublished - Jul 2003

Keywords

  • ASD
  • Autosomal dominant
  • Brachydactyly
  • Oligodactyly
  • Ulnar ray defect

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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