Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.
The LeFort I osteotomy is one of the most commonly used procedures to correct midface deformities. It allows for correction in three dimensions including advancement, retrusion, elongation, and shortening. It is indicated, often in conjunction with mandibular surgery, for class II and III malocclusion, facial asymmetry, obstructive sleep apnea, and maxillary atrophy. Before surgery, proper orthodontics and surgical planning should be undertaken to ensure adequate outcomes. Overall, the surgery is widely used due to its low complication profile and reliable long-term results.
Knuckle pads are a rare, frequently overlooked, thickening of the skin usually overlying the extensor surface of the proximal interphalangeal joints. They are well-circumscribed, benign lesions that generally do not require treatment. Idiopathic knuckle pads must be differentiated from similar appearing lesions or trauma-induced pseudo-knuckle pads. Knuckle pads have been observed in association with autosomal dominant conditions such as Bart-Pumphrey syndrome, Dupuytren's contracture, Ledderhose disease, and Peyronie's disease. To the best of our knowledge, idiopathic familial knuckle pads have not previously been described in the English language literature. We describe a sister and brother with familial idiopathic knuckle pads with no associated conditions.
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