Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure.
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.
Donovan
W D
WD
Department of Radiology, New York Hospital-Cornell Medical Center, NY 10021, USA.
Brill
P W
PW
Winchester
P
P
Giampietro
P F
PF
Davis
J G
JG
Harbison
M
M
D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D007223:Infant; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*; D010375:Pedigree; D014960:X Chromosome