Sp. Donahue et al., BROAD-SPECTRUM MOBIUS SYNDROME ASSOCIATED WITH A 1-11 CHROMOSOME-TRANSLOCATION, Ophthalmic paediatrics and genetics, 14(1), 1993, pp. 17-21
The authors report a case of Mobius syndrome with Poland syndrome, cle
ft palate, dextrocardia, mandibular hypoplasia, and multiple areas of
diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) t
ranslocation in the patient and his phenotypically normal father and b
rother. This case extends the spectrum of congenital disorders that ar
e associated with Mobius syndrome and raises the possibility of geneti
c heterogeneity for the Mobius disorder.