CLINICAL CHARACTERISTICS: Neurocutaneous disorders due to mitochondrial proline synthesis defects comprise PYCR1-related autosomal recessive cutis laxa (ARCL), ALDH18A1-related ARCL, and ALDH18A1-related autosomal dominant cutis laxa (ADCL). These disorders are characterized by thin, translucent skin with wrinkles (especially on the hands and feet); typical facial characteristics including a triangular face with a progeroid appearance, a broad forehead (prominent-appearing neurocranium due to…
