RESUMO
Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome caused by heterozygous deletion of 11p11.2p12. Typical features described in patients with PSS include developmental delay, intellectual disability, multiple cartilaginous exostoses, biparietal foramina, craniofacial abnormalities, and genitourinary anomalies. While hypertension has been noted in three patients with PSS, it has not been described in most patients with this syndrome. This report details the evaluation and treatment of a teenager with PSS who presented on several occasions during childhood with elevated blood pressure measurements. The renin level was elevated, likely indicating a secondary cause for the HTN. The patient's BP responded to monotherapy with Angiotensin Converting Enzyme Inhibitor (ACEI).
Assuntos
Transtornos Cromossômicos/genética , Deficiências do Desenvolvimento/genética , Exostose Múltipla Hereditária/genética , Exostose/genética , Hipertensão/genética , Adolescente , Deleção Cromossômica , Transtornos Cromossômicos/sangue , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 11/genética , Deficiências do Desenvolvimento/sangue , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/patologia , Exostose/sangue , Exostose/complicações , Exostose/patologia , Exostose Múltipla Hereditária/sangue , Exostose Múltipla Hereditária/complicações , Exostose Múltipla Hereditária/patologia , Feminino , Heterozigoto , Humanos , Hipertensão/sangue , Hipertensão/complicações , Hipertensão/patologia , Fenótipo , Renina/sangue , Deleção de Sequência/genéticaRESUMO
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments by a geneticist, ophthalmologist, otolaryngologist, orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel, thyroid studies, and urinalysis. Using array comparative genomic hybridization, we further characterized the deletion in five of these patients. The results of these evaluations were combined with a comprehensive review of reported cases. Our data highlight the characteristic facial features, biparietal foramina, moderate-to-severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses seen with this disorder. We also identify for the first time an association of Potocki-Shaffer syndrome with sensorineural hearing loss and autistic behaviors. Finally, we provide recommendations for the health maintenance of patients with Potocki-Shaffer syndrome.
