Stickler Syndrome, a Genetic Inheritance: Case Report

Background: Stickler syndrome (SS) is a connective tissue disorder affecting the normal collagen production. Majority of cases present an autosomal dominant inheritance pattern. Clinical presentation is characterized by ocular (myopia, vitreoretinal degeneration and retinal detachment), skeletal (premature osteoarthritis, mild spondyloepiphyseal dysplasia and joint hypermobility) and orofacial findings (midfacial underdevelopment, cleft palate and micro/retrognathia), along with neurosensorial hearing loss.

Case Report: A 5-years-old female child was born from a supervised gestation in which a mandibular hypoplasia was suspected in the echography screening of the 2^nd trimester (16 weeks). For this reason, she underwent prenatal testing which showed a normal karyotype (46XX) with no further abnormalities. Her father had a previous diagnosis of SS (molecularly confirmed) displaying ocular and osteoarticular manifestations. More recently a patient’s brother was also diagnosed with SS in a prenatal genetic screening. Our patient was born from a full-term pregnancy with an Apgar index of 8/9/10. On examination, she presented a Pierre Robin sequence and conventional mechanical ventilation was needed during the first 72 hours due to airway obstruction. The patient was hospitalized during 24 days for feeding support. At 12 months of age she was submitted to a surgical correction of cleft palate with a favourable clinical outcome. Subsequent ophthalmological examination depicted a high-grade myopia.

Taking into consideration the presence of a Pierre Robin sequence, high-grade myopia, joint hypermobility (Beighton score of 8/9) and positive first-degree SS family history, the diagnosis of SS was established and posteriorly confirmed with a genetic study. The patient is currently under a multidisciplinary follow-up including speech therapy and psychology.

Conclusion: SS diagnosis is clinically based, encompassing variable phenotypic expressions depending on the inheritance pattern. In the presence of a Pierre Robin sequence a high index of suspicious is needed for the diagnosis of SS, which requires a multidisciplinary management and follow-up.