RESUMEN
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
Asunto(s)
Artritis/genética , Labio Leporino/genética , Fisura del Paladar/genética , Enfermedades del Tejido Conjuntivo/genética , Pérdida Auditiva Sensorineural/genética , Síndrome de Pierre Robin/genética , Desprendimiento de Retina/genética , Artritis/diagnóstico por imagen , Artritis/mortalidad , Artritis/patología , Niño , Preescolar , Labio Leporino/diagnóstico por imagen , Labio Leporino/mortalidad , Labio Leporino/patología , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/mortalidad , Fisura del Paladar/patología , Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Enfermedades del Tejido Conjuntivo/mortalidad , Enfermedades del Tejido Conjuntivo/patología , Femenino , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/mortalidad , Pérdida Auditiva Sensorineural/patología , Humanos , Lactante , Masculino , Síndrome de Pierre Robin/diagnóstico por imagen , Síndrome de Pierre Robin/mortalidad , Síndrome de Pierre Robin/patología , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/mortalidad , Desprendimiento de Retina/patología , Estudios RetrospectivosRESUMEN
PURPOSE: Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum. METHODS: This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations. RESULTS: One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases. CONCLUSIONS: The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions. LEVEL OF EVIDENCE: Level V.