PMC10126520_01
Craniofacial features and imaging results of the proband and father. (A,B) photograph of the proband at 4 years and 5 months: facial asymmetry, epicanthus (red arrow), and preauricular pits (blue arrow), (C,D) photograph of the father: facial asymmetry, epicanthus, and preauricular pits and kin tags (green arrow), (E) heart ultrasound of proband (1 M), (F) pulmonary artery CTA of the proband (4 M), (G) head MRI of the proband (4 M), (H) head MRI of the father.
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F1
She was in the hospital with cyanosis at 1 month old, and echocardiography showed patent foramen ovale (Figure 1E). Since 4 months of age, she was repeatedly in the hospital with pneumonia, and computed tomography angiography (CTA) showed pulmonary artery sling (Figure 1F). In addition, magnetic resonance imaging (MRI) showed delayed myelination (Figure 1G). She was found to have dysmorphic features, including short stature, moderate sensorineural hearing impairment, hypertelorism (Figure 1A), hypotonia, and preauricular pits (Figure 1B, blue arrow). Additional features included epicanthus (Figure 1A, red arrow), mild facial asymmetry (Figure 1A), and bilateral single transverse palmar creases. The proband's father (II-1) is 35 years old and had a low BMI, hypertelorism (Figure 1C), anal atresia, preauricular pits (Figure 1D), and skin tags (Figure 1D, green arrow). Additional features included epicanthus (Figure 1C), upslanted palpebral fissure (Figure 1D), severe facial asymmetry (Figure 1C), scoliosis, mild intellectual disability, and nasal speech.