| | |  | | | | Record from Web of Science® | | | | | | |
| POSSIBLE RELATIONSHIP BETWEEN ULNAR-MAMMARY SYNDROME AND SPLIT HAND WITH APLASIA OF THE ULNA SYNDROME |
|
|
| Author(s): FRANCESCHINI P, VARDEU MP, DALFORNO L, SIGNORILE F, FRANCESCHINI D, LALA R, MATARAZZO P |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 44 Issue: 6 Pages: 807-812 Published: DEC 1 1992 |
| Times Cited: 10 References: 12 |
| 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]. |
| Document Type: Article |
| Language: English |
| Reprint Address: FRANCESCHINI, P (reprint author), UNIV TURIN, SERV GENET CLIN, IST DISCIPLINE PEDIAT, PIAZZA POLONIA 94, I-10126 TURIN, ITALY |
Addresses:
1. OSPED INFANTILE R MARGHERITA, DIV ENDOCRINOL PEDIAT, TURIN, ITALY |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: KC517 |
| ISSN: 0148-7299 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |