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].
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Authors | P Franceschini, M P Vardeu, L Dalforno, F Signorile, D Franceschini, R Lala, P Matarazzo |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 44
Issue 6
Pg. 807-12
(Dec 01 1992)
ISSN: 0148-7299 [Print] United States |
PMID | 1481852
(Publication Type: Case Reports, Journal Article, Review)
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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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