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. 2015 Jan 8;96(1):121–135. doi: 10.1016/j.ajhg.2014.12.003

Figure 1.

Figure 1

CODAS Phenotype

(A and B) A 5 year-old child who is homozygous for LONP1 c.2161C>G (p.Arg721Gly) and who has characteristic physical features of CODAS syndrome. Features include (A) broad skull and flattened midface; ptosis; grooved nasal tip; anteverted nares; and (B) helix hypoplasia (“crumpled” ears).

(C) Laryngoscopy of an affected child revealed airway narrowing secondary to paretic, atrophic vocal cords (inset: normal vocal cords for comparison).

(D) Dense bilateral nuclear cataracts develop rapidly between 2 and 6 months of age in all CODAS-syndrome-affected Amish individuals.

(E and F) Scoliosis and genu valgum progress with advancing age.

(G) Despite previous reports of developmental delay in children with CODAS syndrome, timely ophthalmologic and audiologic intervention appear to be critical developmental determinants; at age 5 years our oldest subject has a vocabulary of more than 100 words, reads at the first grade level, communicates effectively by signing, and has advanced drawing and writing skills.