RESUMEN
BACKGROUND: This study sought to determine the hip pathology of family members of patients with developmental dysplasia of the hip (DDH). The authors evaluated 120 people from 19 families known to have at least 1 member with surgically treated DDH. Each individual's functional outcome scores and pelvic radiographs were assessed for hip symptoms or pathology. METHODS: Using a genetic population database and a pediatric hospital patient population, 19 families with high rates of DDH were identified. All family members (n=120) underwent physical examination, radiographic assessment, and completion of outcome instruments [American Academy of Orthopedics (AAOS) Hip and Knee; Harris Hip Score (HHS); and Western Ontario and McMaster Universities Arthritis Index (WOMAC)]. RESULTS: The 120 subjects ranged from 1 to 84 years, 34 had orthopaedically treated DDH. Of the remaining 86 supposedly normal subjects, 23 (27%) had occult acetabular dysplasia (OAD) as defined by center edge angle (CEA) <20 and/or a Severin score of III or greater. Sixty percent of the 86 individuals were less than 30 years old, 74% of the OAD group were less than 30. Outcome scores of the treated DDH patients (AAOS, HHS, and WOMAC) were worse on the involved side regardless of age. Over age 30 individuals with OAD had statistically significant decreases in their AAOS Hip and Knee and WOMAC scores on the dysplastic side, but their HHS scores were not significantly different. CONCLUSIONS: Twenty-seven percent of first-degree and second-degree relatives of patients with DDH had unsuspected radiographic acetabular dysplasia in our study. Most of the subjects with OAD were younger than 30. After age 30, many of these patients developed symptoms. CLINICAL RELEVANCE: In families with a significant history of DDH, radiographic screening of siblings of patients with DDH to define OAD may be prudent. LEVEL OF EVIDENCE: Level Idiagnostic study.
Asunto(s)
Acetábulo/anomalías , Familia , Predisposición Genética a la Enfermedad , Luxación Congénita de la Cadera/epidemiología , Acetábulo/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/genética , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Radiografía , Estudios Retrospectivos , Estados Unidos/epidemiología , Adulto JovenRESUMEN
OBJECTIVE: To assess whether children and adolescents with neurofibromatosis type 1 (NF1) have decreased bone mineral density (BMD). STUDY DESIGN: Bone densitometry of the whole body, hip, and lumbar spine was used in a case-to-control design (84 individuals with NF1: 293 healthy individuals without NF1). Subjects were 5 to 18 years old. Subjects with NF1 were compared with control subjects by using an analysis-of-covariance with a fixed set of covariates (age, weight, height, Tanner stage, and sex). RESULTS: Subjects with NF1 had decreased areal BMD (aBMD) of the hip (P <.0001), femoral neck (P <.0001), lumbar spine (P = .0025), and whole body subtotal (P <.0001). When subjects with NF1 were separated in groups with and without a skeletal abnormality, those who did not have a skeletal abnormality still had statistically significant decreases in aBMD compared with control subjects (P <.0001 for whole body subtotal aBMD), although they were less pronounced than in those with osseous abnormalities. CONCLUSIONS: These data suggest that individuals with NF1 have a unique generalized skeletal dysplasia, predisposing them to localized osseous defects. Dual energy x-ray absorptiometry may prove useful in identifying individuals with NF1 who are at risk for clinical osseous complications and monitoring therapeutic trials.