Abstract. – The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, charac- terized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolat- ed occurrence or part of a more complex syn- drome and it is associated with long-term respi- ratory, nutritional, and developmental difficul- ties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is di- agnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic cri- terion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stick- ler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complications are rarely identified among this group of pa- tients by members of the cleft team. The patient had an acute unilateral hydrops, with a monolat- eral keratoconus. The ocular abnormalities in- cluded: severe myopia, abnormalities of the vit- reous, and high risk of retinal detachment (with subsequent blindness). We report two extremely rare cases of prenatal diagnosis of PRS and SS, prematurely identified by prenatal ultrasonography and successively managed by oculists ophthalmogists. Key Words: Pierre-Robin Syndrome, Stickler syndrome, Ultra- sonography, Prenatal diagnosis neonatal disease, Oc- ular disease, Micrognathia, Glossoptosis, Respiratory distress, Ipertelorism, Strabismus, Myopia. European Reviewfor Medicaland Pharmacological Sciences Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report E. PACELLA 1 , A. MALVASI 2 , A. TINELLI 3 , F. LATERZA 2 , D. DELL’EDERA 4 , F. PACELLA 1 , F. MAZZEO, A. FERRARESI, K.G. MALARSKA, C. CAVALLOTTI 5 1 Department of Ophtalmology, Sapienza University, Rome (Italy) 2 Department of Obstetrics and Gynaecology, Santa Maria Hospital, Bari (Italy) 3 Department of Obstetrics and Gynaecology, Vito Fazzi Hospital, Lecce (Italy) 4 Medical Genetics Unit, “Madonna Delle Grazie” Hospital, Matera (Italy) 5 Anatomy Institute of Cardiovascolar and Respiratory Department Sapienza University, Rome (Italy) Corresponding Author: Antonio Malvasi, MD; e-mail: antoniomalvasi@gmail.com 1051 Introduction The Pierre-Robin Syndrome (PRS) is a rare malformating pathology and its estimated fre- quency is approximately 1/30,000 1 . PRS is char- acterized by micrognathia, glossoptosis and res- piratory distress at birth due to a glossoptosis-ap- nea syndrome, which determines an obstructive respiratorysymptoms 2 . Sticklersyndrome(SS)isarareautosomaldom- inant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion 3 . The most frequent diagnosis in patients with syndromic PierreRobinsequenceisSticklersyndrome,which may be complicated by congenital high myopia and substantial risk of retinal detachment. Howev- er,casesofSticklersyndromewithprobablevisual complications are rarely identified among this groupofpatientsbymembersofthecleftteam 4 . Micrognathiaisafacialabnormalitycharacter- ized by a small mandibular size resulting in the impression of a receding chin that is detected by midsagittal imaging of the fetal facial profile; frequently in PRS there is an associated posterior cleftpalateorahigharchedpalate 5 . In about 30% of cases PRS may be an isolated occurrence, while, in the following 30%, it is relat- edtootheranomaliesandinthelastthirdofcasesit is part of a more complex syndrome (most fre- quentlySticklerSyndrome).Thismultiplicityofex- pressions is the result of a mixed genetic origin: in 40% of cases PRS is genetically isolated, otherwise itisarecessiveordominantautosomalcondition 5 . 2010;14:1051-1054