*Antley-Bixler syndrome *
Trapezoidocephaly-synostosis
syndrome; characterized by midface
hypoplasia,
humeroradial
synostosis, bowing of femora, fractures; associated with inactivating
mutations in FGFR2;
occasionally associated with
ambiguous genitalia
Trapezoidocephaly-synostosis
syndrome; characterized by midface
hypoplasia,
humeroradial
synostosis, bowing of femora, fractures; associated with inactivating
mutations in FGFR2;
occasionally associated with
ambiguous genitalia
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