Stickler Syndrome: A Possible Presentation of Pierre Robin Sequence

Background: Stickler syndrome (SS) or hereditary progressive arthro-ophthalmopathy is a rare connective tissue disorder with a predominantly autosomal-dominant inheritance. It is characterized by orofacial, ocular, skeletal and auditory abnormalities. Affected children can initially present only with a Pierre Robin sequence (PRS) and a high index of suspicion is required.

Objective: We report a case of SS in a child with PRS.

Methods: Case-report

Results: A preterm female neonate with a positive combined first trimester screening at 12 weeks of gestation (W) was diagnosed with micrognathia, mandibular hypoplasia and retrognathia on prenatal ultrasonography. The serological screening was negative. Her older sister had retrognathia and cleft of the soft palate. Due to the patient’s prenatal history and her older sister’s malformations she was submitted to a prenatal genetic screening. Amniocentesis revealed a normal cariotype with a positive array for SS. She was born by eutocic delivery at 32W and needed no resuscitation. Upon examination she presented with PRS (figures 1 and 2). She presented respiratory distress within 24 hours of life, needing mechanical ventilation until the 14^th day of life. Enteric nutrition was initiated with a nasogastric tube. Red eye reflex and newborn hearing screening were normal. A complete eye examination revealed no alterations. She presented episodes of bradycardia and apnea secondary to glossoptosis, which reverted with manipulation. She was submitted to a successful mandibular distraction at 3 months of age and is currently being followed-up by a multidisciplinary team from plastic surgery, physical rehabilitation, ophthalmology, otolaryngology and orthopaedics. The patient’s older sister was also subsequently screened and diagnosed with SS.

Conclusion: Although SS can present initially with an isolated PRS, abnormalities in the vitrous gel, joint hypermobility, osteoarthritis, sensorineural deafness and mitral valve prolapse may occur in the future leading to a wider therapeutic approach when compared with isolated PRS.