The Deformed Femur

股骨畸形 

2.1 Introduction 

Malformation of the femur may be an isolated anomaly, or it may be associated with abnormalities involving the hip, knee, or the rest of the skeleton. Congenital anomalies of the femur include shortening, failure of development of the proximal or distal ends of the femur, bowing, or duplication; some of these may occur together. 

2.1 引言 

股骨畸形可能是一種孤立的異常，也可能與髖關節(jié),、膝關節(jié)或骨骼其他部位的異常有關,。先天性股骨畸形包括股骨縮短、股骨近端或遠端發(fā)育不良,、股骨彎曲或重復,；其中有些畸形可能同時發(fā)生。

2.2 Questions to Establish a Diagnosis 

2.2 確定診斷的問題 

Is there a history of a viral illness or substance abuse in the mother during pregnancy? 

Ingestion of drugs or other exposures early in the pregnancy can predispose the infant to significant congenital malformations. 

Is there a family history of similar deformities? 

This is important when assessing for a skeletal dysplasia, although a new mutation may also be involved without any family history. 

Is the deformity unilateral or bilateral? 

Bilateral femoral deformities are more likely in a skeletal dysplasia (e.g., campomelic dwarfism). Femoral defi ciency syndromes can be either unilateral or bilateral. 

Is the femur fully formed or is there a failure of formation of either the proximal or distal part of the femur? 

Failure of formation of the proximal femur (proximal focal femoral defi ciency or PFFD) and failure of formation of the distal end of the femur (distal focal femoral defi ciency or DFFD) are associated with severe shortening of the limb. In PFFD the hip is unstable, while in DFFD the knee is unstable. 

Is there a defi ciency of the bones of the leg? 

Aplasia of a bone of the leg may be seen in association with PFFD and also with a bifi d femur. 

Are other limbs also deformed, and if so, are the deformities symmetrical? 

Bowing of the femur may be associated with bowing of other long bones in campomelic dysplasia and osteogenesis imperfecta. Bowing in campomelic dysplasia is usually mild and symmetric, while in osteogenesis the bowing may be severe and asymmetric. 

母親在懷孕期間是否有病毒性疾病或藥物濫用史,？

孕早期攝入藥物或接觸其他物質(zhì)可能會導致嬰兒先天性畸形,。

是否有類似畸形的家族史？

在評估骨骼發(fā)育不良時,，這一點很重要,，盡管沒有家族史也可能涉及新的基因突變。

畸形是單側還是雙側,？

雙側股骨畸形更可能是骨骼發(fā)育不良（如侏儒癥）,。股骨畸形綜合征既可能是單側的,，也可能是雙側的。

股骨是完全形成還是股骨近端或遠端未形成,？

股骨近端成形失?。ü晒墙司衷钚匀睋p或PFFD）和股骨遠端成形失敗（股骨遠端局灶性缺損或DFFD）與肢體嚴重縮短有關,。在PFFD中,，髖關節(jié)不穩(wěn)定，而在DFFD中,，膝關節(jié)不穩(wěn)定,。

腿部骨骼有缺陷嗎？

腿部骨骼發(fā)育不全可能與PFFD以及雙股骨有關,。

其他肢體是否也有畸形,，如果有，畸形是否對稱,？

股骨彎曲可能與營發(fā)育不良和成骨不全癥中其他長骨的彎曲有關,。營發(fā)育不良的股骨彎曲通常是輕微和對稱的，而成骨不全癥的股骨彎曲可能是嚴重和不對稱的,。

2.3 Physical Examination

體格檢查 

2.3.1 Look 

Note what the visible deformity is; note if there is shortening or bowing. If the thigh appears bowed, note the direction and site of bowing. Observe if there is a skin dimple over the site of bowing. Note if the deformities are bilateral and symmetric. Observe if there are deformities in the legs and upper limbs. Look for facial dysmorphism.

注意明顯的畸形,；注意是縮短還是彎曲。如果大腿呈弓形,，注意弓形的方向和部位,。觀察彎曲部位是否有皮膚凹陷。注意畸形是否為雙側對稱,。觀察腿部和上肢是否有畸形,。觀察面部是否畸形。

2.3.2 Feel 

Palpate the femur through its entire length; specifically note if the femoral head and the femoral condyles are palpable. Note the site and extent of bowing if present. Confirm if there is any bony outgrowth on the femoral shaft (duplication). Note if there is any tenderness over the femur. 

觸摸股骨全長,；特別注意是否能觸摸到股骨頭和股骨髁,。如果存在彎曲,，注意彎曲的部位和程度,。確認股骨干上是否有骨質(zhì)增生（重復）。注意股骨是否有壓痛,。

2.3.3 Move 

Perform the Barlow and Ortolani maneuvers to check for hip instability. Check for instability of the knee. Note if there is pain on moving the hip and knee. Check the passive range of hip, knee, and ankle motion. 

進行Barlow和Ortolani試驗,，檢查髖關節(jié)是否不穩(wěn)定。檢查膝關節(jié)是否不穩(wěn)定,。注意移動髖關節(jié)和膝關節(jié)時是否有疼痛感,。檢查髖關節(jié)、膝關節(jié)和踝關節(jié)的被動運動范圍,。

2.4 Investigations to Confirm the Diagnosis 

確診檢查

Plain Radiography 

Observe for bowing deformities (e.g., osteogenesis imperfecta, campomelic dwarfi sm) and pseudarthrosis (proximal femoral deficiency). If there is a concern for a skeletal dysplasia, a skeletal survey must be done (see Chap. 23 ). 

X線平片 

觀察有無弓形畸形（如成骨不全,、侏儒癥）和假關節(jié)（股骨近端缺損）,。如果擔心骨骼發(fā)育不良，必須進行骨骼檢查（見第 23 章）,。

Ultrasound 

In the very young child, this can define if there is a cartilaginous femoral head or a pseudarthrosis from a proximal femoral focal deficiency . 

超聲波

在年幼的兒童中,，這可以確定股骨頭是軟骨性的，還是股骨近端病灶引起的假性關節(jié)炎,。

Genetic Evaluation 

There are over 40 genetic syndromes with femoral bowing. Consultation with a geneticist is essential to identify the syndrome.

遺傳評估

有 40 多種遺傳綜合征會導致股骨彎曲,。要確定該綜合征，必須咨詢遺傳學家,。 

2.5 Differential Diagnosis 

2.5 鑒別診斷 

2.5.1 Shortening 

Congenital Short Femur 

This is the mildest deformity in the spectrum of femoral hypoplasia/aplasia. It simply is a shorter femur compared to the contralateral side and is frequently associated with knee laxity and genu valgus in the older child . It is also a concomitant deformity in children with fibular hemimelia/hypoplasia. 

2.5.1 縮短 

先天性短股骨

這是股骨發(fā)育不良/發(fā)育不全中最輕微的一種畸形,。簡單地說，就是股骨比對側短小,，在年齡較大的兒童中,，常伴有膝關節(jié)松弛和膝外翻。這也是腓骨半脫位/發(fā)育不全兒童的并發(fā)畸形,。

2.5.2 Failure of Development 

2.5.2 發(fā)育的失敗

Proximal Focal Femoral Deficiency 

Proximal femoral focal deficiency (PFFD) is part of the wide spectrum of congenital femoral deformity which can range from congenital coxa vara, congenital short femur, to almost complete absence of the femur . It can be diagnosed on prenatal ultrasound . There are numerous different classification systems. Clinically the thigh is shorter than the opposite side (unless bilateral) and with the hip and knee in fl exion (Fig. 2.1 ). There is often associated external rotation of the thigh. Ortolani and Barlow tests are negative. Plain radiographs will confirm the diagnosis (Fig. 2.2a–e ). 

股骨近端局灶性缺損 

股骨近端局灶性缺損（PFFD）屬于先天性股骨畸形的一種,，其范圍從先天性髖臼發(fā)育不良、先天性股骨短小到幾乎完全沒有股骨,。它可以通過產(chǎn)前超聲波檢查診斷出來,。有許多不同的分類系統(tǒng)。臨床上,，大腿比另一側短（除非是雙側）,，髖關節(jié)和膝關節(jié)外展（圖 2.1）。大腿通常伴有外旋,。Barlow和Ortolani試驗均為陰性,。平片檢查可確診（圖 2.2a-e）。

  

Fig. 2.2 Variations in the radiographic appearance of children with proximal femoral focal deficiency (PFFD): ( a ) A congenital short femur with minimal bowing. ( b ) A congenital short femur with moderate bowing. ( c ) A mild PFFD with pseudarthrosis of the femoral neck and intertrochanteric region. ( d ) A moderate PFFD, with no hip joint but with some distal femoral remnant. ( e ) Severe bilateral PFFD, with essentially no proximal femur bilaterally 

圖 2.2 患有股骨近端局灶性缺損（PFFD）的兒童在影像學表現(xiàn)上的變化：（a）先天性股骨短小,，彎曲程度極小,。( b ) 患有中度股骨彎曲的先天性短股骨。( c ) 輕度 PFFD,，股骨頸和轉子間區(qū)假關節(jié),。( d ) 中度 PFFD，沒有髖關節(jié),，但有一些股骨遠端殘余,。 ( e ) 嚴重的雙側 PFFD，雙側股骨近端基本沒有股骨,。

Distal Femoral Focal Deficiency 

This is an extremely rare condition, and the distal femoral epiphysis may be present with a short distal femoral segment and present with a pseud-arthrosis between the distal femur and the more proximal shaft or completely absent distal femoral physis and epiphysis  (Fig. 2.3a–c ). 

股骨遠端病灶缺損

這是一種極為罕見的病癥,，股骨遠端骨骺可能會出現(xiàn)股骨遠端節(jié)段短，股骨遠端與更近端軸之間出現(xiàn)假性股骨頭壞死,，或者股骨遠端骺端和骨骺完全缺失（圖 2.3a-c ）,。

圖 2.3 新生兒骨盆和下肢的 X 光片,；右側看不到股骨，同側也沒有腓骨（a）,。經(jīng)過一段時間后,，股骨近端已經(jīng)骨化，現(xiàn)在股骨遠端局灶性缺損的性質(zhì)和程度顯而易見 ( b ),。另一名嬰兒左側為局灶性股骨遠端缺損,，右側缺肢 ( c ) 

2.5.3 Bowing Without Shortening 

2.5.3 不縮短的彎曲

Osteogenesis Imperfecta 

Children with osteogenesis imperfecta may be born with bowing of the femur, and often the bowing may be demonstrated prenatally on the ultrasound scan. Osteogenesis imperfecta is the third most common cause for prenatal femoral bowing . The bowing is most commonly in the proximal third and most frequently the bowing is anterolateral (Fig. 2.4 ). 

成骨不全癥

患有成骨不全癥的兒童在出生時可能會出現(xiàn)股骨彎曲，而且這種彎曲通常會在產(chǎn)前的超聲波掃描中顯示出來,。成骨不全癥是導致產(chǎn)前股骨彎曲的第三大常見原因,。股骨彎曲最常見于近端三分之一處，而且最常見的是前外側彎曲（圖 2.4）,。

  Fig. 2.4 Anterolateral bowing in a child with osteogenesis imperfecta          

圖 2.4 一名成骨不全癥患兒的股骨前外側彎曲                           

  Fig. 2.5 Femoral bowing in a child with campomelic dysplasia 

圖 2.5 一名營發(fā)育不良癥患兒的股骨彎曲 

2.5.4 Bowing with Shortening 

2.5.3 縮短的彎曲

Campomelic Dysplasia (Synonyms: Camptomelic Dysplasia, CMPD) 

Campomelic dysplasia may be diagnosed prenatally at 13 weeks of gestation by bowing of the femora. At birth the femurs are short and bowed. The mild or moderate bowing of the femur is in the anterolateral direction at the proximal third of the bone (Fig. 2.5 ). The tibia is also bowed anterolaterally in the distal third. Clubfeet, hypoplastic fibulae, developmental dysplasia of the hips, cleft palate, abnormal genitalia in the male, and tracheomalacia may be present. Another radiographic feature is absent ossification of the pedicles of thoracic vertebrae. Upper cervical instability may be present. Campomelia is the most common of over 40 distinct entities that present with femoral bowing at birth or prenatally . 

軀干發(fā)育異常,，CMPD （同義詞：Campomelic Dysplasia，CMPD） 

胎兒在妊娠 13 周時,，可通過股骨彎曲診斷出骨骺發(fā)育不良,。出生時股骨短小且呈弓形。股骨的輕度或中度彎曲位于骨骼近端三分之一處的前外側（圖 2.5）,。脛骨遠端三分之一的前外側也呈弓形,。可能會出現(xiàn)馬蹄內(nèi)翻足,、腓骨發(fā)育不良,、髖關節(jié)發(fā)育不良、腭裂,、男性生殖器異常和氣管畸形,。另一個影像學特征是胸椎椎骨骨化缺失。上頸椎可能不穩(wěn)定,。在出生時或出生前出現(xiàn)股骨彎曲的 40 多種不同類型的畸形中,，最常見的是脊柱畸形。

2.5.5 Duplication 

2.5.5重迭

Bifid Femur 

This is usually a duplication of the distal end of the femur, frequently associated with tibial aplasia ,。

雙股骨

通常是股骨遠端重復,，常伴有脛骨發(fā)育不良。

2.5.6 Rare Conditions

2.5.6 罕見病癥 

Kyphomelic Dysplasia 

This is an autosomal recessive syndrome with the most striking feature being angulation of the femora which are also short and broad with flared metaphyses ; often there is bowing of the radius and tibia. 

侏儒癥

這是一種常染色體隱性遺傳綜合征,，最顯著的特征是股骨成角,，股骨也短而寬,，骨骺外翻,；橈骨和脛骨經(jīng)常彎曲。

Stüve-Wiedemann Syndrome 

This is an autosomal recessive syndrome comprising of long bone bowing, scoliosis, and respiratory compromise . Although usually lethal in infancy, some children survive. The femora demonstrate coxa vara and bowing with knee hyperextension. 

斯圖維-韋德曼綜合征 

這是一種常染色體隱性遺傳綜合征,，包括長骨彎曲,、脊柱側彎和呼吸衰竭,。雖然通常在嬰兒期死亡，但仍有一些患兒存活下來,。股骨表現(xiàn)為髖臼發(fā)育不良和弓形,，并伴有膝關節(jié)過伸。

2.6 Establishing the Diagnosis 

An outline of the approach to establishing a diagnosis is shown in Table 2.1 

2.6 確定診斷 

表 2.1 列出了確定診斷的方法概要