PMC9512126_01
Clinical examination of the patient revealing short stature, bushy eyebrows, bulbous nose, flat nasal dental anomalies, thick lips, pectus excavatum, bilateral hypoplastic nails of the 5th finger and toe, scoliosis and pilonidal sinus.
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Other anomalies included scoliosis and pilonidal sinus (Figure 1).
X-rays of the hands and feet showing delayed bone age and hypoplastic distal phalanx of the 5th digit in the hands and feet.
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Bone-age was delayed by 2 years compared to the chronological age and the hand and foot X-rays confirmed hypoplastic distal phalanx of the 5th digit in the hands and feet (Figure 2).
Brain MRI revealing agenesis of the corpus callosum (a.) and pituitary hypoplasia (b.).
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Therefore, GHD was confirmed, and brain MRI was performed, revealing agenesis of the corpus callosum, bilateral hippocampal atrophy and pituitary hypoplasia (Figure 3).