TY - JOUR
T1 - A variant of the “DIDMOAD” syndrome
T2 - (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness)
AU - Friedman, E.
AU - Blau, A.
AU - Farfel, Z.
PY - 1986/1
Y1 - 1986/1
N2 - A 29‐year‐old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the “DIDMOAD” (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient.
AB - A 29‐year‐old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the “DIDMOAD” (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient.
KW - Diabetes insipidus
KW - diabetes mellitus
KW - retinal pigmentation
KW - sensorineural deafness
UR - http://www.scopus.com/inward/record.url?scp=0022631530&partnerID=8YFLogxK
U2 - 10.1111/j.1399-0004.1986.tb00774.x
DO - 10.1111/j.1399-0004.1986.tb00774.x
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AN - SCOPUS:0022631530
SN - 0009-9163
VL - 29
SP - 79
EP - 82
JO - Clinical Genetics
JF - Clinical Genetics
IS - 1
ER -
