On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies.
A two-year-old boy with the combination of profound nerve deafness and semilobar holoprosencephaly associated with minor midline developmental anomalies is reported. In a review of the literature we could not find other examples of this possible syndromic association.
Vantrappen
G
G
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Feenstra
L
L
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome