Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.
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].
Franceschini
P
P
Istituto di Discipline Pediatriche, Università di Torino, Italy.
Vardeu
M P
MP
Dalforno
L
L
Signorile
F
F
Franceschini
D
D
Lala
R
R
Matarazzo
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001050:Apocrine Glands / Q000002:abnormalities*; D001940:Breast / Q000002:abnormalities*; D003481:Cuspid / Q000002:abnormalities*; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011628:Puberty, Delayed / Q000235:genetics*; D013577:Syndrome; D014079:Tooth Eruption, Ectopic / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*