hrp0097p2-123 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hypophosphatasia: a pediatric patient treated with asfotase alfa

Orlandini Eleonora , Schiavariello Concetta , Tamburrino Federica , Perri Annamaria , Mazzanti Laura , Pession Andrea , Scarano Emanuela

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

hrp0095p1-325 | Growth and Syndromes | ESPE2022

ERF mutation in a patient with Noonan-like phenotype, type 1 diabetes mellitus and epilepsy

Schiavariello Concetta , Tamburrino Federica , Piazza Francesca , Perri Annamaria , Maltoni Giulio , Rossi Cesare , Pession Andrea , Mazzanti Laura , Scarano Emanuela

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

hrp0097p1-515 | Growth and Syndromes | ESPE2023

Two novel cases of CHOPS syndrome support the evidence of a highly homogeneous phenotype including short stature with skeletal abnormalities and obesity

Orlandini Eleonora , Montanari Francesca , Severi Giulia , Tamburrino Federica , Schiavariello Concetta , Perri Annamaria , Cesarini Sofia , Soliani Luca , Scarano


CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...