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Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure |
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| Authors: | William D. Donovan P. W. Brill Patricia Winchester Philip F. Giampietro Jessica G. Davis Madeleine Harbison |
| Affiliation: | (1) Department of Radiology, The New York Hospital-Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA, US;(2) Department of Pediatrics, Division of Genetics, The New York Hospital-Cornell Medical Center, New York, New York, USA, US;(3) Department of Pediatrics, Division of Endocrinology, The New York Hospital-Cornell Medical Center, New York, New York, USA, US |
| Abstract: | Congenital fusion of the fourth and fifth metacarpals is described in a male infant and his maternal grandfather. Primary gonadal failure, which is present in the infant, has not been noted in previously reported cases. The pedigree in this family is compatible with X-linked recessive or autosomal dominant inheritance with incomplete penetrance. |
| Keywords: | Congenital metacarpal fusion Gonadal failure X-linked inheritance Autosomal dominant inheritance |
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