RESUMO
@#Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.
RESUMO
We reported a girl diagnosed Schinzel-Giedion syndrome with severe psychomotor retardation and malformation that was characterized by mid face retraction, scoliosis, skull anomaly, wide cranial fontanels, brain cortical atropy, atrial septal defect, and hydronephrosis. Urinary tract infection, respiratory tract infection, and seizure were common. The neurodevelopment therapy was not effective and developmental stage was not improved. Spasticity was the only findings which was improved.
Assuntos
Feminino , Humanos , Encéfalo , Fontanelas Cranianas , Comunicação Interatrial , Hidronefrose , Espasticidade Muscular , Infecções Respiratórias , Escoliose , Convulsões , Crânio , Infecções UrináriasRESUMO
Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.
Assuntos
Feminino , Humanos , Lactente , Masculino , Constrição Patológica , Orelha , Extremidades , Testa , Hidronefrose , Hipertelorismo , Hipertricose , Hipospadia , Deficiência Intelectual , Klebsiella pneumoniae , Nefrocalcinose , Nariz , Quadriplegia , Convulsões , Língua , Infecções UrináriasRESUMO
Schinzel-Giedion syndrome is a rare autosomal recessive condition characterized by a typical face including midface retraction, urogenital anomalies, and skeletal manifestations. So far 30 patients have been reported. This is the first report of this syndrome demonstrated in Korea. We describe a male infant with the typical findings of Schinzel-Giedion syndrome, also showing sacrococcygeal teratoma.