PMC9845254_01
PMC9845254_02
PMC9845254_03
Cranial manifestations in the 54-year-old CFNS female patient. The figure shows (A) Facial dysmorphism (left) and frontal view of the 3D-CT showing facial asymmetry, dental crowding and the sinusoidal nasal septum with a large right bone spur (right); (B) high-arched palate, and (C) posterior view of the 3D-CT showing flat occiput and left parietal bone prominence.
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F1
At 53 years old, the patient attended a physical examination by clinical genetics for the first time, revealing brachycephaly, flat occiput, midface hypoplasia, wide nasal bridge, bifid nasal tip (surgically corrected), hypertelorism, downslanting palpebral fissures, high-arched palate, dental crowding (Figure 1), severe pectus excavatum, unilateral breast hypoplasia, brachydactyly, a low-set fifth finger of the right hand with hypoplastic metacarpal, and a single left transverse palmar crease (Figure 2). A three-dimensional computed tomography scan (3D-CT) of the skull showed coronal craniosynostosis, sinusoidal nasal septum with a large right bone spur, mucosal thickening of the maxillary and ethmoidal sinuses, lack of pneumatization and poor development of frontal sinuses, and left parietal bone prominence (Figure 1).
Extracranial manifestations in the patient. (A) Unilateral breast hypoplasia (left) and thorax 3D-CT revealing pectus excavatum (right). (B) Brachydactyly, a low-set fifth finger of the right hand with hypoplastic metacarpal, and a single left transverse palmar crease.
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PMC9845254_03_fgene-13-1092301-g002.jpg
F2
At 53 years old, the patient attended a physical examination by clinical genetics for the first time, revealing brachycephaly, flat occiput, midface hypoplasia, wide nasal bridge, bifid nasal tip (surgically corrected), hypertelorism, downslanting palpebral fissures, high-arched palate, dental crowding (Figure 1), severe pectus excavatum, unilateral breast hypoplasia, brachydactyly, a low-set fifth finger of the right hand with hypoplastic metacarpal, and a single left transverse palmar crease (Figure 2). CT confirmed the diagnosis of pectus excavatum (Figure 2). Cranial tomography showed no nervous system alterations, an echocardiogram test was within normal range and renal echography did not show renal involvement.