The major developmental defect include hypoplasia of left side of face, ipsilateral ptosis and small eyes, anteverted small nose and philtrum, small ear lobules and rudimentary left thumb while right thumb was absent. [ncbi.nlm.nih.gov]

Radiographs showed a short humerus and absent ulna bilaterally. On the upper extremities there was only a single digit. [ashg.org]

Cutaneous manifestation of chromosomal disorders Chromosomal disorders may be due to abnormalities of chromosome number or structure. They may involve autosomes or sex chromosomes. [ncbi.nlm.nih.gov]

Histopathology of skin biopsy from left upper arm evidenced mild hyper keratosis, focal acanthosis and spongiosis with moderate lymphocytic infiltrate in upper dermis. [ncbi.nlm.nih.gov]

Presence of collodion membrane, cutaneous xerosis, hypertrichosis, café-au-lait spots more than 6 in numbers, ash leaf macules, cutaneous haemangiomas, erythrodermas associated abnormalities of hair, nail and teeth at birth or in early infancy should [ncbi.nlm.nih.gov]

Histopathology of skin biopsy from left upper arm evidenced mild hyper keratosis, focal acanthosis and spongiosis with moderate lymphocytic infiltrate in upper dermis. [ncbi.nlm.nih.gov]