She had no past history of epilepsy. On examination, her height was 140 cm ( 5th percentile), and her weight was 39.3 kg ( 5th percentile). [scielo.br]

Pruritus is a prominent feature that is not found in other types of ichthyotic skin disorders, and has been recognized as an important symptom that strongly suggests the diagnosis of SLS8. [scielo.br]

forehead, low-implanted ears, stenosis of the choana) and digital malformations (polyand clinodactyl hands and feet) typical of OFDS. [analesdepediatria.org]

The parents noted a cognitive developmental delay and difficult walking. He also had dysarthria. On examination, his height was 143 cm (percentile 50) and his weight was 36 kg (percentile 50). [scielo.br]

Neurological examination demonstrated increased deep tendon reflexes and clonus. Nerve conduction studies were normal. [scielo.br]