Fig. 1From: Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case reportClinical characteristics of family members and family lineage. The mother presented with clinical characteristics of NF1 (a-c): cutaneous and subcutaneous neurofibromas (b) and CALMs (c). The father had a rhizomelic short stature with proximal shortening of the upper limbs (e-f). Our index patient (g-k); presented with short stature, proximal shortening of the limbs (g-i), inguinal freckling (j) and multiple CALMs (h and k). Family lineage shows all affected members in the family (d)Back to article page