title: Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.
abstract: Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpaşa Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD.
authors.affiliation: Istanbul Universitesi Cerrahpaşa Tip Fakültesi Genetik ve Teratoloji Uygulama ve Araştirma Merkezi, Cerrahpaşa, Istanbul, Türkiye. mehseven@istanbul.edu.tr
authors.forename: M
authors.initials: M
authors.lastname: Seven
authors.forename: A
authors.initials: A
authors.lastname: Ozkiliç
authors.forename: A
authors.initials: A
authors.lastname: Yüksel
mesh_terms: D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D019150:Neuroaxonal Dystrophies / Q000473:pathology*; D035781:Siblings