疑似特发性发育性髋关节发育不良的综合征诊断并发的发生率和危险因素。

Incidence and Risk Factors for Concurrent Syndromic Diagnosis in Presumed Idiopathic Developmental Dysplasia of the Hip.

机构信息

From the Shriners Hospitals for Children, Greenville, SC (Dr. Gettys), and the Department of Orthopedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, TX (Dr. De La Rocha, and Dr. Ramo).

出版信息

J Am Acad Orthop Surg Glob Res Rev. 2022 Jun 6;6(6). doi: 10.5435/JAAOSGlobal-D-21-00169. eCollection 2022 Jun 1.

DOI:10.5435/JAAOSGlobal-D-21-00169

PMID:35666487

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9173516/

Abstract

BACKGROUND

Infants referred for developmental dysplasia of the hip (DDH) may have a previously unidentified concomitant diagnosis of syndromic pathology. Our purpose was to examine the incidence of syndromic pathology in infants referred to a tertiary center with presumed idiopathic DDH and identify risk factors and difference in treatment courses between idiopathic and nonidiopathic cohorts.

METHODS

A retrospective analysis of a prospective cohort of infants younger than 3 years who were evaluated for DDH between 2008 and 2013 with a minimum 2-year follow-up. The clinical history and treatment were noted to determine the incidence and nature of concomitant syndromic diagnoses, after a confirmed diagnosis of DDH.

RESULTS

There were 202 patients: 177 were females (87.6%). Thirteen patients (6.4%) were later diagnosed with a neurologic/syndromic diagnosis. The workup leading to additional diagnosis was initiated by the orthopaedic surgeon in 8 of 13 patients (61.5%). Half of the referrals (4 of 8) made to other specialists were because of an abnormal treatment course (three-failure of typical DDH treatment and one-relapsed clubfeet). 7 of the 8 referrals were made because of developmental delays and decreased tone. 5 of the 13 nonidiopathic patients had other orthopaedic problems. The syndromic diagnoses included three cerebral palsy, two Kabuki syndrome, one Down syndrome, one myopathy, and one neuropathy. The diagnosis was made at an average of 2.3 years (0.04 to 4.7). No notable difference was observed in the incidence of the four known risk factors for DDH in syndromic patients compared with the idiopathic group. The syndromic patients required more open reductions (P = 0.002).

DISCUSSION

By the age of 3 years, 6% of the patients treated for DDH were found to have a syndrome or neurologic abnormality, and the referral for workup was made by the treating surgeon greater than 60% of the time.

摘要

背景

患有发育性髋关节发育不良（DDH）的婴儿可能存在先前未被识别的综合征性疾病的合并诊断。我们的目的是检查在一家三级中心就诊的疑似特发性 DDH 婴儿中综合征性疾病的发病率，并确定特发性和非特发性队列之间的风险因素和治疗方案差异。

方法

对 2008 年至 2013 年间因 DDH 接受评估且随访至少 2 年的小于 3 岁婴儿的前瞻性队列进行回顾性分析。在确诊 DDH 后，记录临床病史和治疗情况，以确定并发综合征性诊断的发生率和性质。

结果

共纳入 202 例患儿，其中女性 177 例（87.6%），13 例（6.4%）患儿后来被诊断为神经/综合征性疾病。13 例中有 8 例（61.5%）的额外诊断是由骨科医生进行检查后发现的。由于异常治疗过程（3 例典型 DDH 治疗失败，1 例复发马蹄内翻足），向其他专家转诊的患儿有 4 例（8 例中的一半）。转诊的 8 例患儿中有 7 例因发育迟缓且肌张力下降。13 例非特发性患儿中有 5 例存在其他骨科问题。综合征性诊断包括 3 例脑瘫、2 例歌舞伎综合征、1 例唐氏综合征、1 例肌病和 1 例神经病。平均诊断年龄为 2.3 岁（0.04 至 4.7 岁）。与特发性组相比，综合征患儿中四种已知 DDH 危险因素的发生率无显著差异。综合征患儿需要更多的切开复位（P = 0.002）。