Daughter and Her Mildly Affected Father With Keipert Syndrome (CROSBI ID 126237)
Prilog u časopisu | stručni rad
Podaci o odgovornosti
Dumic, Miroslav ; Dovzak Kokic, Durda ; Matic, Toni ; Potocki, Kristina
engleski
Daughter and Her Mildly Affected Father With Keipert Syndrome
A ten-year old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
broad terminal phalanges ; sensorineural deafness ; unusual facies ; hoarse voice
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o izdanju
140A (22)
2006.
2488-2492
objavljeno
1552-4825
1552-4833
Povezanost rada
Kliničke medicinske znanosti