title: SADDAN syndrome.
abstract: Achondroplasia is the most common type of short-limbed dwarfism in children resulting from fibroblast growth factor receptor (FGFR) mutations. Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. Acanthosis nigricans is associated with these skeletal dysplasias and we recently encountered a skeletal dysplasia along with acanthosis nigricans in a young boy. We report the case due its unusual nature affecting one of twin brothers.
authors.affiliation: Department of Endocrinology, Command Hospital, Lucknow 226002, Uttar Pradesh, India. hariendo@rediffmail.com
authors.forename: K V S Hari
authors.initials: KV
authors.lastname: Kumar
authors.forename: Altamash
authors.initials: A
authors.lastname: Shaikh
authors.forename: Ruchita
authors.initials: R
authors.lastname: Sharma
authors.forename: Pitamber
authors.initials: P
authors.lastname: Prusty
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics*; D006801:Humans; D008297:Male; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D035781:Siblings; D014427:Twins
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3