RESUMEN
Bilateral preretinal and vitreous hemorrhages in infants are rare and can present a diagnostic challenge, with nonaccidental trauma included in the differential diagnosis. We present the case of a 4-week-old boy in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene. This early association with Stickler syndrome has not been described previously.
Asunto(s)
Artritis/genética , Colágeno Tipo II/genética , Enfermedades del Tejido Conjuntivo/genética , Pérdida Auditiva Sensorineural/genética , Mutación , Desprendimiento de Retina/genética , Hemorragia Vítrea/genética , Artritis/diagnóstico , Enfermedades del Tejido Conjuntivo/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Recién Nacido , Masculino , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Reacción en Cadena de la Polimerasa , Desprendimiento de Retina/diagnóstico , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/genética , Hemorragia Retiniana/cirugía , Vitrectomía , Hemorragia Vítrea/diagnóstico , Hemorragia Vítrea/cirugíaRESUMEN
The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down-slanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed.