PMC3525289_01
Figure 1: (A) Characteristic whistling face deformity (B) Bilateral camptodactyly (C) Cryptorchidism.
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F1
He had abnormal whistling facies including an extremely small puckered mouth; thin, pursed lips with long and well developed philtrum of upper lip, unusually prominent cheeks, and broad forehead (Fig. 1A). Both upper limbs had camptodactyly with ulnar deviation of fingers and wrists with contracture of thumbs in adduction (Fig. 1B). The other significant anomalies included scoliosis of thoracic spine, deformed rib cage, bilateral talipes equinovarus and cryptorchidism (Fig. 1C).
Figure 2: (A-B) X rays both hands and wrist AP views showing arthrogryposis, camptodactyly, and ulnar deviation of fingers. (C) Equinovarus deformity.
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F2
The patient was investigated (Fig. 2, 3), and referred to pediatric tertiary care facility for staged oral commissuroplasty.
Figure 3: (A) 4D reconstructed colored CT image of face showing round forehead, prominent cheeks, broad nasal bridge, long philtrum, small nose, hypoplastic nostrils, and small mouth with whistling appearance. (B) 4D reconstructed bony image of the skull / face showing prominent forehead, patent anterior fontanel, non fused coronal suture, fused sagittal suture, hypotelorism with large orbits, long philtrum, and abnormal dentition. (C) Plain X ray chest and abdomen AP view showing hypoplastic cervical vertebral bodies, scoliosis of dorsal spine, wide ribs with narrow vertebral ends, normal lung inflation and normal bowel gas shadows.
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F3
The patient was investigated (Fig. 2, 3), and referred to pediatric tertiary care facility for staged oral commissuroplasty.