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. 2024 Dec 16;25(24):13471. doi: 10.3390/ijms252413471

Table 2.

Correlation of the main clinical features of Xeroderma Pigmentosum, Type F/Cockayne Syndrome with the clinical presentation of the patients.

Clinical Features Patient IV-1 Patient IV-2
Abnormality of the eye no no
Abnormality of the integument
Cutaneous photosensitivity yes yes
Freckling yes yes
Abnormality of the musculoskeletal system
Flexion contracture yes yes
Microcephaly yes yes
Scoliosis yes no
Abnormality of the nervous system
Cerebellar ataxia no no
Dementia no no
Intellectual disability yes yes
Morphological central nervous system abnormality Agenesis of the corpus callosum, dilation of the lateral ventricles no
Hyperreflexia yes yes
Hearing impairment yes yes
Growth abnormality
Decreased body weight yes yes
Short stature yes yes
Neoplasm no no