Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Aarskog-Scott syndrome (AAS) is characterized by different facial, skeletal and genital anomalies and may have oral manifestations. A 7-year-old boy was referred to the University General Hospital for treatment of speech difficulties and frequent regurgitation. Characteristics such as a triangle-shaped face, hypertelorism, low-set ears, flattened nose, shawl scrotum and partial syndactylia on hands and feet were observed. Based on these clinical features, the child was diagnosed with AAS. Upon intraoral examination, maxillary atresia and an incomplete cleft palate were observed. The mixed dentition was characterized by extensive coronary destruction of primary teeth and caries lesions on permanent teeth. Here, the case of a 9-year follow-up of this child with uncommon AAS associated with cleft palate is reported. The child was referred to a multidisciplinary team for planning and carrying out the treatment. In the follow-up visit after 9 years from the beginning of the treatment, the child showed greater sociability, with significant improvement in spontaneous speech and pronunciation of phonemes. However, the patient continues until now with articulation and spontaneous speech training. The correction of class II malocclusion, better dental alignment and canine extrusion were achieved. At the moment, the patient uses a nighttime extraoral device, and the treatment continues for dental alignment and prevention of tooth decay. The presence of cleft palate could be coincidental with AAS and may aggravate the prognosis, requiring careful patient monitoring by a multiprofessional team. Key words:Aarskog-Scott syndrome, cleft lip, cleft palate, multidisciplinary treatment.