Ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

Delayed puberty

Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.


Total: 3

                       


(per page)
PMID (PMCID)
8923944
 MIXED_SAMPLE Infant
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome.
Bamshad M, Root S, Carey JC.
Am J Med Genet. 1996;65(4):325-31.
The ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.
8595424
 MIXED_SAMPLE
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB.
Hum Mol Genet. 1995;4(10):1973-7.
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies.
1481852
 MIXED_SAMPLE
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.
Franceschini P, Vardeu MP, Dalforno L, Signorile F, Franceschini D, Lala R, Matarazzo P.
Am J Med Genet. 1992;44(6):807-12.
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.