ENT Flashcards
A child is referred to clinic with speech delay. They have a history of cleft palate repair and agenesis of the right thumb. On examination, you note that they are short for their age.
Children with Nager syndrome have normal intelligence but may have speech delay secondary to hearing impairment. Respiratory and feeding problems are common in the neonatal period. Preaxial limb deformities are common. Unlike Treacher Collins syndrome, children with Nager syndrome do not have eyelid colobomas.
A child with a history of cleft palate repair is found to be myopic.
Stickler syndrome is a connective tissue disorder that is usually associated with high myopia. Abnormal architecture of the vitreous is pathognomic. Infants have joint laxity but this improves with age.
A child with a cleft palate is also noted to have a pit in their lower lip.
Autosomal dominant condition where children may have pits or sinuses in their lips or palate. Most cases are caused by a mutation the IRF6 (interferon regulatory factor 6) gene.
