Abstract
AbstractIntroduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race. The infant carrier may present neurological development. This rare syndrome requires documentation of its main clinical and kinetic-functional consequences.Objectives The purpose of this study was to describe the clinical and kinetic-functional findings for a child who has Treacher Collins syndrome and receives treatment in the Physiotherapy Department at the Pestalozzi Association in Goiania, and to present the evolution of motor function and psychomotor development during rehabilitation.Materials and methods The information was obtained through interviews with the mother, and evaluation of the child at nine and eleven months old, using the infant neurological assessment sheet, Inventory Operational Portage (IPO) and Gross Motor Function Measure (GMFM).Results The GMFM showed that the child had a higher trend in the items for lying and rolling, sitting, crawling and kneeling and minor changes in the items for standing, walking, running and jumping. In the IPO, the child progressed in all of the assessed areas: infant stimulation, motor development, socialization, self-care, cognition and language.Conclusion The child showed progress in psychomotor development in accordance with that expected for their age and initial assessment. It is suggested that children with this syndrome be treated by multidisciplinary teams in the first years of life, preventing delays and deviations in development.
Highlights
Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations
Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder characterized by craniofacial abnormalities and appears with various clinical variables: deformities in the conformation of the 1st branchial arch of the mouth; enlargement of the buccal cavity towards the ear; deformities in the conformation of the 1st and 2nd branchial arches, consisting of congenital absence of half of the lower jaw; Crouzon syndrome, which is part of a group of congenital malformations characterized by premature closure of cranial sutures; hypertelorism, congenital deformation of the cranium and the face, manifesting in excessive deviation of the eyes with enlargement of the nostrils
On the second day after birth, the doctors identified characteristics of Treacher Collins syndrome; the confirmation of the diagnosis occurred in the second month
Summary
Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder characterized by craniofacial abnormalities and appears with various clinical variables: deformities in the conformation of the 1st branchial arch of the mouth; enlargement of the buccal cavity towards the ear; deformities in the conformation of the 1st and 2nd branchial arches, consisting of congenital absence of half of the lower jaw; Crouzon syndrome, which is part of a group of congenital malformations characterized by premature closure of cranial sutures; hypertelorism, congenital deformation of the cranium and the face, manifesting in excessive deviation of the eyes with enlargement of the nostrils. The syndrome is a dominant autosomal disease of craniofacial development resulting from mutations and loss
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