I believe that patient has achondroplasia because the short limbs and macrocephaly are a sign of failed endochondral ossification where cartilage is laid down by chondrocytes before it is converted into woven bone. Since cartilage is made out of collagen, that's the answer.
submitted by โwaitingonprometric(264)
I think that this is osteogenesis imperfecta based on the hx of several fractures that occurred during birth.
From FA2019, pg. 51: Manifestations can include--multiple fractures with bone deformities and minimal trauma; may occur during the birth process
OI is caused by gene defects in COL1A1 and COL1A2; most common form is autosomal dominant with decreased production of normal type 1 collagen.