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Fig. 1 | Diagnostic Pathology

Fig. 1

From: Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Fig. 1

Clinical presentation of a Pakistani family with autosomal dominant achondroplasia: (a) Affected individuals showing short stature with near to normal head growth. Shortened hands of father (II-3) are prominent but not evident in children due to their younger ages. b, c Represent affected individuals III-1 and III-2 in the pedigree respectively; facial and skull growth pattern is near to normal with mild flat nasal bridge. Axial skeleton is less affected, whereas shortened humerus is prominent. d, e Affected individuals III-1 and III-2 in the pedigree respectively; both children are displaying bilateral bowing of legs and little feet intoeing. f Affected individual II-3 in the pedigree; an adult presenting characteristic bilateral bowing of tibia

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