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PRIKAZI BOLESNIKA BIBLID: 0370-8179, 135(2007) 5-6, p. 346-351 UDC: 616.7-089:615.8 TREATMENT POSIBILITIES IN ECTROMELIA Dan NEMEŞ, Dan POENARU, Oana BERETEU, Roxana ONOFREI, Elena AMARICAI, Alina TOTOREAN 1”Victor Babeş” University of Medicine and Pharmacology, Timisoara, Romania; 2City Universitary and Emergency Hospital-Rehabilitation and Rheumatology Department, Timisoara, Romania; 3Timis County Universitary and Emergency Hospital-II Orthopaedic and Traumatology Department, Timisoara, Romania; 4Timis County Universitary and Emergency Hospital-II Orthopaedic and Traumatology Department, Rehabilitation Department, Timisoara, Romania SUMMARY Introduction Ectromelia is a congenital abnormality characterised by limb growth disturbances (aplasia or hypoplasia) dur- ing the period from 4th to 8th gestation week. Case outline We present a case of hemimezomelic longitudinal ectromelia of the right upper limb associated with other skel- etal abnormalities, surgically treated. An important role in the management of this case is attributed to the complex rehabili- tation programme done before and after each surgical intervention. Conclusion The aim of the complex therapy is to diminish the permanent invalidity of these patients. Key words: ectromelia; surgical treatment; functional rehabilitation INTRODUCTION months of pregnancy. At the age of two, the patient was admitted to the Children’s Clinic with bronchopneumo- Ectromelia is defined as a congenital development nia, anaemia, nutritional dystrophy and plurimalforma- anomaly characterised by limb growth disturbances tive syndrome, treated for a long period with intramus- (aplasia or hypoplasia) or by limb amputations due to cular antibiotics. amniotic liquid insufficiency [1]. This report describes Examination showed growth retardation (height – a case of ectromelia and tries to analyse the efficiency of 125 centimetres, weight – 32 kilogrammes); macrotia, a complex treatment. low set ears; triangular face (Figure 1); short right devi- ated cervical spine; an antero-lateral deformation of the thoracic cage; shortening of the right forearm with mus- CASE REPORT cular atrophy and an external deviation of this anatom- ical segment (Figure 2). There also could be seen a radi- A 19-year old white female from the rural environ- al deviated right hand, tetradactyly due to right thumb ment was referred to the Orthopaedic and Traumatology agenesis, clinodactyly of the second, third and fourth Clinic II of the Emergency County Hospital Timisoara for finger of the right hand (Figure 3) and left hypoplastic right knee stiffness and a congenital plurimalformative thumb (Figure 4). Examination also showed advanced syndrome. The patient is the first child of a young female left quadriceps hypotrophy (Figure 5). who developed multiple respiratory virosis in the first 1 2 3 4 FIGURE 1. Facial aspects of the patient. FIGURE 3. Tetradactyly due to right thumb agenesis; clinodactyly of SLIKA 1.­Izraz­lica­bolesnika. the second, third and fourth finger of the right hand. FIGURE 2. Shortening of the right forearm, muscular atrophy, exter- SLIKA 3.­Tetradaktilija­usled­nedostatka­palca­desne­ruke;­kli­ nal deviation. nodaktilija­drugog,­trećeg­i­četvrtog­prsta. SLIKA 2.­Skraćewe­desne­podlaktice,­atrofija­mišića,­devi­ FIGURE 4. Left hypoplastic thumb. jacija­upoqe. SLIKA 4.­Hipoplazija­palca­leve­ruke. 346 SRPSKI­ARHIV­ZA­CELOKUPNO­LEKARSTVO Radiology of the right forearm and right hand revealed The surgeons took several surgical steps in consider- the absence of the radius, the first metacarpal and the ation. Because orthostatism and walking were consid- thumb and the right club hand (Figure 6). X-ray of the left ered indispensable for self-care, the first surgical inter- hand revealed agenesis of the first metacarpal and thumb vention consisted of Judet method for knee mobilisa- hypoplasia (Figure 7). tion (Figure 9) [1]. On the spine and thoracic X-ray, there could be seen A 90º right knee flexion was established after this first thoraco-lumbar right-convex scoliosis (Figure 8a, 8b). surgical step (Figure 10). Laboratory investigations and abdominal ultrasonog- The rehabilitation programme was started in the first raphy were normal. post-surgical days and consisted of hygienic orthopaed- According to the anamnestic, clinical and radiologi- ic measures for the right lower limb, electrical stimula- cal data, the following diagnoses were established: tion (Figure 11a-d), massage, kinetotherapy and occu- 1. Hemimezomelic longitudinal ectromelia of the right pational therapy [2, 3]. The main aim of this complex upper limb. programme was to re-educate static and gait and to 2. Right radial club hand. Right tetradactyly with clin- strengthen the hypotrophic muscles. odactyly of the second, third and fourth fingers. Left In the first postoperative week, the patient performed thumb hypoplasia. isometric exercises for quadriceps strengthening and 3. Iatrogenic post-injection right knee stiffness. also passive and active assisted range of motion of the 4. Thoracolumbar right-convex decompensated scolio- right lower limb (Figure 12a-c) [2, 3]. sis with secondary deformation of the thoracic cage. Using a helping frame, the patient was sustaining her 5. Growth and mental retardation. own weight partially on her arms and orthostatism was achieved, leaning on the healthy limb. 5 7 The rehabilitation programme was continued in kinetotherapy room. At this moment, the aim was to correct body posture, especially for scoliosis by per- forming adapted exercises [3] and to regain movement coordination and a correct way of walking, using Fren- kel exercises [4] (Figure 13a-b), walking with a helping device (Figure 14), walking using visual control for pos- 6 10 FIGURE 5. Left quadriceps hypotrophy. SLIKA 5.­Hipotrofija­levog­kvadricepsa. FIGURE 6. Absence of the radius, the first metacarpal and the thumb and the right club hand. SLIKA 6.­Izostanak­radijusa,­prve­metakarpalne­kosti­i­palca­ desne­ruke­sa­tipičnim­deformitetom­šake. FIGURE 7. Agenesis of the first metacarpal and thumb hypoplasia (left hand). SLIKA 7.­Agenezija­prve­metakarpalne­kosti­i­hipoplazija­pal­ ca­leve­ruke. FIGURE 10. 90º right knee flexion established after the first surgical step. 8a 8b SLIKA 10.­Posle­prve­etape­hirurškog­lečewa­u­kolenu­je­posti­ gnuta­fleksija­od­90­stepeni. 11a 11c 9 FIGURE 8a-b. Thoraco-lumbar right-convex scoliosis. 11b 11d SLIKA 8a-b.­Torakolumbalna­dekstrokonveksna­skolioza. FIGURE 9. Judet technique (intraoperative pictures). FIGURE 11a-d. Electrotherapy. SLIKA 9.­Žideova­tehnika­(intraoperacioni­nalaz). SLIKA 11a-d.­Elektroterapija. 347 SRPSKI­ARHIV­ZA­CELOKUPNO­LEKARSTVO 12a 12b 12c FIGURE 12a-c. Isometric exercises for quadriceps strengthening; passive and active assisted range of motion of right lower limb. SLIKA 12a-c.­Izometričke­vežbe­za­jačawe­kvadricepsa;­pasivno­i­aktivno­potpomognuto­dobijen­obim­pokreta­u­kolenu. ture and walking education, climbing stairs with addition- al support and ergo cycle (Figure 15a-c) [3]. The preoperative rehabilitation programme was also performed as the second surgical step. The surgeons used the Sulamaa technique for radius total aplasia [5]. The preoperative rehabilitation programme consisted of anal- gesic electrotherapy, massage and kinetotherapy [2, 3]. After the first surgical step and the complex rehabili- tation programme, improvement of the right knee stiff- ness, orthostatism (Figure 16a-b) and walking without 13a 13b helping devices were achieved. Activities of daily living FIGURE 13a-b. Frenkel exercises. using both hands were also possible. SLIKA 13a-b.­Frenkelove­vežbe. DISCUSSION Ectromelia is defined as a congenital development anomaly characterised by limb growth disturbances (apla- sia or hypoplasia) or by limb amputations due to amniotic 14 15b liquid insufficiency [6]. The failure of normal limb devel- opment from 4th and to 8th gestation week is due to tera- togenic, mechanical or vascular factors or genetic muta- tions and chromosomal aberrations may be involved [6, 7]. The most frequent teratogenic factors are thalidomide [2-5], misoprostol (prostaglandin E1 analogue), alcohol consumption, chemotherapy and vasoconstrictor thera- 15а 15c py in the first gestation period [6, 7]. Prenatal diagnosis procedure chorionic villus sam- FIGURE 14. Walking with a helping device. pling before 10 weeks gestation, rupture of the amni- SLIKA 14.­Hodawe­sa­pomagalom. on, strands of the collapsed amnion and adhesions are FIGURE 15a-b. Ergo cycle. some of the most frequent mechanical factors associated SLIKA 15a-b.­Ergo­bicikl. with ectromelia [6, 7]. Although considered to be a spo- radic anomaly, there are some cases of genetically based ectromelia, due to recessive (Roberts syndrome, autosom- al recessive tetra-amelia, X-linked tetra-amelia) or dom- inant mutations (Holt-Oram syndrome), or to chromo- somal aberrations such as trisomy 8 or deletion of region 7q22 found on the long arm of chromosome 7 [6, 7]. According to the type and grade of limb involvement, ectromelia can be classified in transverse forms such as total ectromelia, phocomelia and hemimelia, and in lon- gitudinal forms. A more severe degree is total ectromelia, also called amelia, characterised by the absence of one or more limbs, rarely unilateral [6, 7]. Phocomelia is a prox- imal type of ectromelia, in which the limbs are directly attached onto the body, due to the absence of belts or of 16а 16b the middle segments of the limbs. Usually it is a bilateral, symmetric malformation [6, 7]. Hemimelia
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  • Craniofacial Diseases Caused by Defects in Intracellular Trafficking

    Craniofacial Diseases Caused by Defects in Intracellular Trafficking

    G C A T T A C G G C A T genes Review Craniofacial Diseases Caused by Defects in Intracellular Trafficking Chung-Ling Lu and Jinoh Kim * Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA 50011, USA; [email protected] * Correspondence: [email protected]; Tel.: +1-515-294-3401 Abstract: Cells use membrane-bound carriers to transport cargo molecules like membrane proteins and soluble proteins, to their destinations. Many signaling receptors and ligands are synthesized in the endoplasmic reticulum and are transported to their destinations through intracellular trafficking pathways. Some of the signaling molecules play a critical role in craniofacial morphogenesis. Not surprisingly, variants in the genes encoding intracellular trafficking machinery can cause craniofacial diseases. Despite the fundamental importance of the trafficking pathways in craniofacial morphogen- esis, relatively less emphasis is placed on this topic, thus far. Here, we describe craniofacial diseases caused by lesions in the intracellular trafficking machinery and possible treatment strategies for such diseases. Keywords: craniofacial diseases; intracellular trafficking; secretory pathway; endosome/lysosome targeting; endocytosis 1. Introduction Citation: Lu, C.-L.; Kim, J. Craniofacial malformations are common birth defects that often manifest as part of Craniofacial Diseases Caused by a syndrome. These developmental defects are involved in three-fourths of all congenital Defects in Intracellular Trafficking. defects in humans, affecting the development of the head, face, and neck [1]. Overt cranio- Genes 2021, 12, 726. https://doi.org/ facial malformations include cleft lip with or without cleft palate (CL/P), cleft palate alone 10.3390/genes12050726 (CP), craniosynostosis, microtia, and hemifacial macrosomia, although craniofacial dys- morphism is also common [2].