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Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia

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Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia children Article Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia Dror Paley Paley Orthopedic & Spine Institute, 901 45th St., West Palm Beach, FL 33407, USA; [email protected] Abstract: Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27 cm for achondroplasia (12–40 cm) and 17 cm for hypochondroplasia (range 10–25 cm). There were 48 females and 27 males. Lengthening was done either by 2-segment (14 patients; both tibias and/or both femurs) or by 4-segment lengthenings (64 patients; both femurs and tibias at the same time). Most patients also had bilateral humeral lengthening. Patients had 2 or 3 lower limb lengthenings and one humeral lengthening. Lengthenings were either juvenile-onset (31), adolescent-onset (38) or adult-onset (6). The average age at final follow-up was 26 years old (range 17–43 years). There were few permanent sequelae of complications. The most serious was one paraparesis. All patients returned to activities of normal living and only one was made worse by the surgery (paraparesis). This is the first study to show that ELL can lead to an increase of height into the normal height range. Previous studies showed mean increases of height of up to 20 cm, while this study consistently showed an average increase of 30 cm (range 15–40 cm) for juvenile-onset and mean increase of 26 cm (range 15–30 cm) for adolescent-onset. This results in low normal height at skeletal maturity for males and females. The adult-onset had a mean increase of 16.8 (range 12–22 cm). This long-term follow-up study shows that ELL can be done safely even with large lengthenings and that 4-segment lengthening may offer advantages over 2-segment lengthening. While all but the more recent cases were performed using external fixation, implantable Citation: Paley, D. Extensive Limb limb lengthening promises to be an excellent alternative and perhaps an improvement. Lengthening for Achondroplasia and Hypochondroplasia. Children 2021, 8, Keywords: achondroplasia; hypochondroplasia; dwarfism; short-limb; short stature; FGFR3; skeletal 540. https://doi.org/10.3390/ dysplasia; genetic condition; extensive limb lengthening children8070540 Academic Editor: Vito Pavone 1. Introduction Received: 11 May 2021 Limb lengthening for achondroplasia is controversial [1–3]. Modern techniques of Accepted: 22 June 2021 limb lengthening, using distraction osteogenesis, have been able to add significant length Published: 24 June 2021 to the lower and upper limbs of children and adults with achondroplasia and hypochon- droplasia [1–6]. The long-term results of these treatments have remained unknown. There Publisher’s Note: MDPI stays neutral has been concern that while the increased stature may be obtained, the patients will even- with regard to jurisdictional claims in tually develop degeneration of their joints or other long-term complications [2,3]. The published maps and institutional affil- iations. purpose of this study is to determine what are the long-term results of extensive limb lengthening (ELL) in achondroplasia and hypochondroplasia. From 1987 to 1997, all the cases of ELL performed by the author were by two-segment lengthenings; bilateral tibial lengthening [4] (double-level lengthening with external fixa- tion in most cases) followed by single-level bilateral femoral lengthening (Figure1). Copyright: © 2021 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). Children 2021, 8, 540. https://doi.org/10.3390/children8070540 https://www.mdpi.com/journal/children Children 2021, 8, 540 2 of 12 Children 2021,, 8,, xx FORFOR PEERPEER REVIEWREVIEW 2 of 12 FigureFigure 1.1. PhotographsPhotographs ofof aa femalefemale patientpatient withwith achondroplasiaachondroplasia standingstanding besidebeside herher mothermother atat ageage 13 (leftleft)) andand atat at ageage age 1717 17 ((right (right).).). HerHer Her heightheight height increasedincreased increased fromfrom from 44′′ (122(122 40 (122 cm)cm) cm) beforebefore before lengtheninglengthening lengthening toto 55′′1.5 to 5″ 0 (156(1561.5” (156cm) after cm) after two twolower-limb lower-limb 2-segment 2-segment lower-limb lower-limb adolescent-onset adolescent-onset lengthenings lengthenings totaling totaling 10.25 10.25”″ (26(26 (26cm). cm). She She also also had had 10 cm 10 cmof lengthening of lengthening of her of herhumeri. humeri. TheThe usualusual goal in thethe tibiastibias was 15–16 cm and the goal in the femurs was 10–12 cm. SinceSince 1997,1997, thethe authorauthor switchedswitched toto simultaneoussimultaneous 4-segment4-segment lengtheninglengthening ofof bothboth femursfemurs andand both tibias tibias at at the the same same time time using using external external fixationfixation fixation [5][5] (Figures [(Figures5] (Figures 2–7).2–7).2– The7The). Thefemursfemurs femurs werewere werelengthenedlengthened lengthened toto aa maximummaximum to a maximum goalgoal ofof goal 88 cmcm of andand 8 cm thethe and tibiastibias the toto tibias 77 cm,cm, to forfor 7 aa cm, totaltotal for gaingain a total inin heightheight gain inofof height15 cm. This of 15 method cm. This was method later modified was later to do modified bilateral to femoral do bilateral lengthening femoral with lengthening implant- withable lengthening implantable nails lengthening simultaneous nails with simultaneous bilateral tibial with lengthening bilateral tibial with lengthening external fixation with external(Figure 8 fixation left). This (Figure was 8referred left). This to as was 4-segment referred hybrid to as 4-segment lengthening hybrid (Figure lengthening 8 middle). (FigureSince 2014,8 middle) with the. Since advent 2014, of withshorter the and advent smaller of shorter diameter and implantable smaller diameter lengthening implantable nails, lengthening4-segment femur nails, and 4-segment tibia all femur implantable and tibia nail all lengthenings implantable nailwere lengthenings performed (Figure were per- 8, formedright) [6,7]. (Figure 8, right) [6,7]. FigureFigure 2. Photograph of male patient with achondroplas achondroplasiaiaia standingstanding besidebeside hishishis mothermother atatat ageage 1010 (leftleft)) and age 16 (right). His height increased from 3′9″ (114 cm) before lengthening to 5′5.5″ (165 cm) after and age 16 (right).). His height increased fromfrom 330′9”9″ (114 cm) before lengthening toto 550′5.5”5.5″ (165 cm) after three 4-segment lower-limb juvenile-onset lengthenings totaling 15.75″ (40 cm). He also had 12 cm three 4-segment4-segment lower-limblower-limb juvenile-onsetjuvenile-onset lengtheningslengthenings totalingtotaling 15.75”15.75″ (40(40 cm).cm). HeHe alsoalso hadhad 1212 cmcm lengtheninglengthening ofof hishis humeri.humeri. lengthening of his humeri. Children 2021 8 Children 2021,, 8,, 540x FOR PEER REVIEW 33 of of 1212 Children 2021, 8, x FOR PEER REVIEW 3 of 12 Figure 3.3. AchondroplasticAchondroplastic male male height height growth growth chart chart (lower (lower shaded) shaded) compared compared to normal to normal male height male growthheightFigure growth chart3. Achondroplastic (upper chart dashed).(upper male dashed). Achrondroplastic height Achrondroplastic growth boy chart from (lower Figureboy fromshaded)1 standing Figure compared to 1 rightstanding ofto growthnormal to right chart male of height growth chart (upper dashed). Achrondroplastic boy from Figure 1 standing to right of showinggrowth chart his 15.75”showing = 40his cm 15.75 lengthening″ = 40 cm lengthening added to his added preoperative to his preoperative predicted pred heighticted at maturityheight at maturitygrowth chart (120 showingcm). Final his adult 15.75 height″ = 40 aftercm lengthening three 4-segment added lower to his limb preoperative lengthenings pred isicted 5′5.5 height″ = 166.3 at (120 cm). Final adult height after three 4-segment lower limb lengthenings is 505.5” = 166.3 cm which cmmaturity which (120 is in cm). the normalFinal adult height height range after for threean adult 4-segment male. lower limb lengthenings is 5′5.5″ = 166.3 iscm in which the normal is in the height normal range height for an range adult for male. an adult male. Figure 4. Achondroplastic girl standing next to her mother during the second of three juvenile-onset Figurelower-limbFigure 4. Achondroplastic 4-segment lengthenings. girl standing The nextne 4xt monolateral to her mother fixators during are the clearly secondsecond visible. of three The juvenile-onset radiograph lower-limbtolower-limb the right 4-segmentshows4-segment an 8 lengthenings. lengthenings.cm gain in the The The femurs 4 4 monolateral monolateral and a 7 cm fixators fixators gain in are arethe clearly clearlytibia-fibula. visible. visible. The The radiograph radiograph to to the right shows an 8 cm gain in the femurs and a 7 cm gain in the tibia-fibula. the right shows an 8 cm gain in the femurs and a 7 cm gain in the tibia-fibula. Children 2021, 8, 540 4 of 12 Children 2021, 8, x FOR PEER REVIEW 4 of 12 Children 2021, 8, x FOR PEER REVIEW 4 of 12 FigureFigure 5.5. AchondroplasticAchondroplastic femalefemale heightheight growthgrowth chartchart (lower(lower shaded)shaded) comparedcompared toto normalnormal femalefemale heightFigureheight growthgrowth5. Achondroplastic chartchart (upper(upper female dashed).dashed). height AchondroplasticAchondroplastic growth chart girlgirl
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