Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
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Jeanne Médéric, Ronce Nathalie, Remizé Solène, Arpin Stéphanie, Baujat Geneviève, Breton Sylvain, Petit Florence, Vanlerberghe Clémence, Coeslier-Dieux Anne, Manouvrier-Hanu Sylvie, Vincent-Delorme Catherine, Khau Van Kien Philippe, Van-Gils Julien, Quélin Chloé, Pasquier Laurent, Odent Sylvie, Demurger Florence, Laffargue Fanny, Francannet Christine, Martin-Coignard Dominique, Afenjar Alexandra, Whalen Sandra, Verloes Alain, Capri Yline, Delahaye Andrée, Plaisancié Julie, Labrune Philippe, Destree Anne, Maystadt Isabelle, Ciorna Monferrato Viorca, Isidor Bertrand, Vincent Marie, Jean Marçais Nolwen, Nambot Sophie, Schaefer Elise, El Chehadeh Salima, Lespinasse James, Collignon Patrick, Busa Tiffany, Philip Nicole, Willems Marjolaine, Planes Marc, Vanakker Olivier M, Lambert Laetitia, Leheup Bruno, Mathieu-Dramard Michèle, Morin Gilles, Dieterich Klaus, Ginglinger Emmanuelle, Bayat Allan, Balasubramanian Meena, Dauriat Benjamin, Haye Damien, Amiel Jeanne, Rio Marlène, Cormier-Daire Valérie, Toutain Annick
Аннотация
METHODS: Phenotypic characterisation of the largest reported AAS cohort, comprising 111 male patients with proven causative variants in FGD1, through comprehensive analyses of clinical data including congenital anomalies, growth and neurodevelopment. Review of photographs and radiographs by experts in dysmorphology and skeletal disorders.
RESULTS: This study refines the phenotypic spectrum of AAS, with the description of new morphological and radiological features, and refines the prevalence of the features. Short stature is less frequent than previously reported and has a prenatal onset in more than half of the patients. The growth has a specific course with a catch-up during the first decade often leading to low-normal stature in adulthood. Whereas intellectual disability is rare, patients with AAS have a high prevalence of specific learning difficulties and attention hyperactivity disorder. In light of this better knowledge of AAS, we provide management recommendations.
CONCLUSION: A better knowledge of the natural history and phenotypic spectrum of AAS will be helpful for the clinical diagnosis and for the interpretation of FGD1 variants using a retrophenotyping strategy, which is becoming the most common way of diagnosis nowadays. Recommendations for care will improve the management of the patients.