“…Typical clinical manifestations in females include coronal synostosis, leading to the characteristic facial asymmetry, wide-set eyes (hypertelorism), bifid nasal tip, longitudinal ridging and splitting of nails, and wiry curly hair ( Van Den Elzen et al, 2014 ). Other reported manifestations are clinodactyly, cutaneous syndactyly, unilateral breast hypoplasia, bilateral cleft lip and palate, depressed nasal bridge, short and wide upper face, skeletal abnormalities, visual complications, umbilical and diaphragmatic hernia, and corpus callosum agenesis or dysgenesis, among others ( Van Den Elzen et al, 2014 ; Inoue et al, 2018 ; Acosta-Fernández et al, 2020 ; Gürsoy et al, 2021 ). Male carriers commonly present only a few mild signs, such as hypertelorism, or no signs at all ( Van Den Elzen et al, 2014 ).…”