PMC10171555_01
The patient displays distinct craniofacial dysmorphism, including severe bilateral proptosis, frontal bossing, low-set ears, and a depressed nasal bridge (A). The patient has an abnormal wrist position with bilateral wrist flexion contracture, and bilateral finger contracture (B). The proband's brother presented similar clinical features in the first days after birth, including severe proptosis, depressed nasal bridge, triangularly shaped mouth, short neck, and low-set ears (C).
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F1
Additionally, the infant presented a craniofacial dysmorphism with trigonocephaly, midface hypoplasia, choanal atresia, ectropion, severe proptosis, a depressed nasal bridge, a triangularly-shaped mouth, low-set ears, a short neck (Figure 1C), a narrow chest, and severe respiratory distress, necessitating immediate mechanical ventilation after birth.