Fig. 1

Clinical progression of the mucolipidosis III alpha/beta phenotype. a Pedigree of the family. Both parents were confirmed to be heterozygous carriers of the respective pathogenic variant. b The twin brother (II-2) and the proband (II-1) at four months of age. The current photo shows a clear lack of catch-up growth even at four months of age for the proband Note that facial dysmorphism was minimal. c At 24 months of age, the coarsening of facial features, trigonocephaly, flat nasal bridge and prominent eyes became more apparent (left). The kypho-lordosis, crouched gait with bent knee posture was seen on standing. Claw-hand deformities were seen (right) (d) Close-up view of the thick claw hand of the patient (left) and pectus carinatum deformity of the chest wall (right)