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Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

Abstract
We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].
AuthorsP Franceschini, M P Vardeu, L Dalforno, F Signorile, D Franceschini, R Lala, P Matarazzo
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 44 Issue 6 Pg. 807-12 (Dec 01 1992) ISSN: 0148-7299 [Print] United States
PMID1481852 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (genetics)
  • Adolescent
  • Apocrine Glands (abnormalities)
  • Breast (abnormalities)
  • Cuspid (abnormalities)
  • Female
  • Genitalia, Male (abnormalities)
  • Hand Deformities, Congenital (genetics)
  • Humans
  • Male
  • Pedigree
  • Puberty, Delayed (genetics)
  • Syndrome
  • Tooth Eruption, Ectopic (genetics)
  • Ulna (abnormalities)

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