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Fig. 1 | BMC Genetics

Fig. 1

From: A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

Fig. 1

Gross morphology of the facial dysplasia syndrome (FDS). a. Overall morphology showing malformation and reduced size of the head and slight bilateral anterior arthogryposis. Bar = 20 cm. b. Detail of a FDS case. Notice the prolapse of the eye, dysplasia and ventral deviation of the vicerocranium, protrusion of the tongue and the reduced size of the calvarium. Bar = 5 cm. c Longitudinal section of the head. The nasal septum (NS) is deviated ventrally. The cerebrum (C) is compressed and protrudes through the fontanella (arrow) and the occipital lobes are dislocated caudally (*). The cerebellum (arrowheads) is compressed and dislocated caudally. T: tongue. Bar = 5 cm. d. Radiograph of the same specimen as shown in c. In addition to the lesions presented in c, the abnormal shape and reduced size of the cranial vault is evident. Notice the very thin occipital bones (arrowhead) and the severely malformed and undersized maxilla (M). Bar = 5 cm. See Additional file 2 for comparison with a normal calf.

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