PMC4065484_01
Egyptian child with Berardinelli-Seip syndrome type 1
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F1
On examination, his vital signs were normal, his weight was 47 kg (25 percentile) height: 143 cm (25 percentile) [Figure 1].
Prominent orbital ridges, large ears and empty cheeks
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F2
He looked older than his stated age; he had acromegaloid features (enlarged hands and feet, big ears and prominent mandible prominent orbital ridges) [Figures 2 and 3], absence of subcutaneous fat in the extremities, face and trunk; prominent pectoral and calf muscles [Figures 2 and 4].
Large hands
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F3
He looked older than his stated age; he had acromegaloid features (enlarged hands and feet, big ears and prominent mandible prominent orbital ridges) [Figures 2 and 3], absence of subcutaneous fat in the extremities, face and trunk; prominent pectoral and calf muscles [Figures 2 and 4].
Prominent pectoral and calf muscles
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F4
He looked older than his stated age; he had acromegaloid features (enlarged hands and feet, big ears and prominent mandible prominent orbital ridges) [Figures 2 and 3], absence of subcutaneous fat in the extremities, face and trunk; prominent pectoral and calf muscles [Figures 2 and 4].
Acanthosis nigricans of the neck
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F5
He had acanthosis nigricans in the neck, axillae and groins [Figure 5].