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Figure 2 | BMC Medical Genetics

Figure 2

From: Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

Figure 2

Clinical features of AMDM. Bowing of forearm in an affected member (V-8) in family A (a), affected members including V-5 in family B, V-4 in family C, VI-6 in family D, V-2 in family E showing short fingers and redundant skin (b-e), an affected member V-4 at 38 years of age with his younger brother V-5 at 27 years of age in family A (f), an affected member V-3 at 36 years of age with a carrier VI-1 at 29 years of age in family D along with one of the authors (g), an affected member IV-5 in family F showing short stature and short extremities (h). Radiograph of hand and forearm of an affected member V-4 in family A (i), V-3 in family D (j), IV-5 of family F (k), showing epiphysis of the radius, shortening of ulna, short and stubby metacarpels. Radiograph of vertebral column of an affected member IV-5 in family F showing mild platyspondyly (l).

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