Oral and maxillofacial pathology
Orofacial manifestations of Robinow’s Syndrome: a case report in a pediatric patient

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Robinow’s syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms. This syndrome includes a series of anomalies such as short stature, characteristic facial dysmorphism (fetal facies), genital hypoplasia, and mesomelic brachymelia. The purpose of the present case is to describe the orofacial manifestations of the syndrome in a pediatric patient: craniofacial features, triangular mouth and a long upper lip philtrum, ankyloglossia, a shortened tongue devoid of tongue tip, a geographic tongue, arched palate, gingival hyperplasia, dental abnormalities (misaligned and crowded teeth), and delayed tooth eruption.

Section snippets

Case Report

A 27-month-old male child of African descent, diagnosed with Robinow’s syndrome, was referred by his surgeon to the Pediatric Dentistry Department of a public university of Rio de Janeiro, Brazil for a dental appointment.

During anamnesis, the mother reported an uneventful pregnancy, and hospitalization of the patient at birth was due to respiratory problems. According to his medical history, the patient was diagnosed at birth as having the syndrome with the autosomal recessive form (diagnosis

Discussion

The patient in this case was diagnosed as having the autosomal recessive Robinow’s syndrome, based on clinical features only; a genetic examination was not performed. His parents revealed absence of consanguinity, and his 3 siblings (all of them older than him) showed none of the clinical features of this syndrome. Genetic counseling was provided for the family, because in the presence of family history, this can be relatively easy, and prenatal diagnosis may be performed at 19 weeks of

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