[Hypertelorism-hypospadias (BBB) syndrome. 2 additional family studies].
We report on two unrelated families with the hypertelorism-hypospadias (BBB-) syndrome. The male index patients, 3 and 10 months old, respectively, have ocular hypertelorism, cleft lip and palate, high and broad nasal bridge and hypospadias. The patients' mothers, maternal grandmothers and one patient's sister show hypertelorism. In addition, we summarize the characteristics of previously published cases.
Krause
M
M
Abteilung Humangenetik, Christian-Albrechts-Universität, Kiel.
Meinecke
P
P
Krins
M
M
Grote
W
W
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
Das Hypertelorismus-Hypospadie-(BBB-)Syndrom. Zwei weitere Familienbeobachtungen.