PMC4283451_01
Pedigree of the family (IV-7: proband-with arrow, IV-1, 2, 3: ex siblings with the same phenotype, IV-4, 5: miscarriage, and IV-6: healthy sibling with cleft palate).
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fig1
She was the seventh child of healthy parents who were first cousins (Figure 1).
Frontal view of the proband. Note the broad nasal bridge, root, and tip, protruding ears, and bifid frenula.
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fig2
She had a broad nasal bridge, root, and tip, protruding ears, and bifid frenula (Figure 2).
Lateral view of the patient. Note the retrognathic mandible.
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fig3
Class III malocclusion (Figure 3). Cutaneous lesions below her lower lip were suggestive of self-injurious behaviour.
Hands of the patient. Note the surgery scars.
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fig4
She had broad hands, with syndactyly and polydactyly of both hands, and bilateral bifid thumbs (Figure 4).
Feet of the patient. Note bilateral talipes equinovarus.
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fig5
She had bilateral talipes equinovarus (Figure 5).
Tongue of the patient. Note the surgery scars secondary to tumor-like lesions.
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fig6
Intraoral examination revealed cleft palate and a pseudo-cleft lip, sublingual hamartoma, and lobulated tongue that had been operated on bilaterally because of tumor-like lesions (Figure 6).
Panoramic radiograph of the patient.
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fig7
Her panoramic radiograph revealed oligodontia with congenitally absent upper permanent second premolars, the lower permanent central incisors, the left lateral incisor, and the right second premolar (Figure 7).