A case report on obstructive sleep apnea in a pediatric patient with achondroplasia

@#A 22-month-old male diagnosed with achondroplasia was referred for difficulty in sleeping and was diagnosed to have severe obstructive sleep apnea (OSA) on polysomnography (PSG) (AHI 50.1). This patient had macrocephaly, midface hypoplasia, flat nasal bridge, relative macroglossia and enlarged palatine and adenoid tonsils. The patient underwent bilateral tonsillectomy with adenoidectomy without complication. Six months post-op, repeat polysomnography revealed a still severe (AHI 15.7) OSA with preferential recovery of REM and N3 sleep. Further outpatient follow-up and management is warranted. OSA despite being common in this subset of patients remains overlooked and not prioritized because of the multitude of coexisting concerns. Management of OSA in children with achondroplasia shows improved sleep structure and is helpful for further growth and development.

Clinical features and FGFR3 mutations of children with achondroplasia / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.@*METHODS@#A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.@*RESULTS@#Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.@*CONCLUSIONS@#This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.

Growth hormone effects on childrens height with achondroplasia and hypochondroplasia: a systematic review and metanalysis

Introduction: Achondroplasia (Ach) is the most frequent cause of dwarfism. The first therapeutic strategy offered to patients with Ach was. However, GH has played un important role in Ach and Hypochondroplasia (Hch), despite short-term and long-term effects. Purpose: The aim of this systematic review and meta-analysis was to assess the efficacy of GH in the height of patients with Ach and Hch in the short and long term. Methods: 12 studies were included selected from the Pubmed database (3 Randomized Clinical trials (RCTs) and 9 prospective studies) from 1993 to 2014. Comparing high and low doses of GH. The systematic review included 9 prospective studies and the high-dose GH arm of the 3 RCTs. Inclusion criteria was focused on paediatric patients with Ach and Hch treated with GH. Demographic variables were collected including age, gender, dose, height and follow-up. The height variables included height increase and height velocity. Finally, 363 patients with Ach and 41 patients with Hcb were included. A was performed with a follow-up from one to 3 years. Results: In patients with Ach the average height velocity at one, two and three years were 2.65, 1.07 and -0.87 cm/years respectively (p<0.05). The RCTs showed a significant increase in height velocity in patients treated with high dose of GH (MD= 1.38, 95% CI: 0.68-2.07, p=0.0001, I2=0%) . Height at one year increased 0.61 cm. The RCTs did not show significant differences (MD 0.11, 95% CI: 0.17-0.39, p=0.44, I2 = 0%). Finally, patients with Hch increased height velocity 4 cm/year at the first year (p<0.05). Conclusion: GH treatment is beneficial in the shor-term height of children with Ach and Hch. GH effect on different ages and subgroups is unknown, as well as its possible long--term consequences

Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report

BACKGROUND: Achondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant disease. The patients with achondroplasia suffer from various complications such as craniofacial, central nervous system, spinal, respiratory and cardiac anomalies.CASE DESCRIPTION: We report a case of a 35-year-old man with achondroplasia who visited the emergency room with right hemiplegia and aphasia within 6 hours after onset. An Initial CT angiography showed the total occlusion of a left internal cerebral artery due to the thrombus. We treated the patient with endovascular thrombectomy using “Solumbra technique” with balloon guiding catheter. The procedure was successful and result was completely recanalized with Thrombolysis in Cerebral Infarction (TICI) scale 3 and the weakness also improved from grade II to grade IV.CONCLUSION: Acute ischemic stroke patients with achondroplasia could be treated with mechanical thrombectomy.

Surgical Results of Limb Lengthening at the Femur, Tibia, and Humerus in Patients with Achondroplasia

BACKGROUND: Results of limb lengthening in patients with achondroplasia were previously reported in many studies. However, the reports of comparison among the three long bones (femur, tibia, and humerus) are rare, especially for the results of crossed lengthening (lengthening of one femur and contralateral tibia followed by that of the opposite side) for the lower limbs. The purpose of this study was to report the surgical results of a series of limb lengthening in achondroplastic or hypochondroplasia patients at our institution. METHODS: Fifteen patients (14 with achondroplasia and 1 with hypochondroplasia) underwent lower limb lengthening of the femur (n = 32) and tibia (n = 28), and 12 of them underwent crossed lengthening. Humeral lengthening was performed in 14 patients (n = 28). The mean age at the first operation was 11.7 years, and the mean follow-up duration was 66.7 months. The healing index, consolidation period index (duration of consolidation period/gained length), and other radiographic indices were analyzed. Limb length discrepancy and hip-knee-ankle alignment in lower limbs, and the occurrence of difficulties were assessed. RESULTS: The average gain in length for the femur, tibia, and humerus was 8.3 cm, 8.5 cm, and 7.4 cm, respectively. The mean healing index was 29.6 days/cm for the femur, 29.0 days/cm for the tibia, and 27.2 days/cm for the humerus. The mean consolidation period index was 14.7 days/cm for the humerus, which was significantly lower than that in the lower limb (17.3 days/cm for the femur and 17.8 days/cm for the tibia). Of the 12 who underwent crossed lengthening, five showed limb length discrepancy ≥ 1.0 cm. Among their 24 lower limbs, three showed valgus alignment ≥ 5° and one showed varus alignment ≥ 5°. Thirty-two pin site infections and three fractures were conservatively managed. Three femoral fractures, eight equinus deformities, and four cases with premature consolidation of the fibula were surgically treated. Obstacle and true complication related to humeral lengthening were not observed. CONCLUSIONS: Humeral lengthening was relatively effective and safe. Careful attention will be needed to avoid the occurrence of limb length discrepancy or malalignment in crossed lengthening.

Hematoma de Morel Lavallée gigante en la rodilla derecha: reporte de un caso / Giant Morel Lavallée hematoma in the right knee: case report

RESUMEN Se presenta el caso del paciente de 36 años de edad, con antecedentes de acondroplasia que desde hace 7 meses sufrió una lesión traumática no de gravedad en la rodilla derecha. La cual comienza a aumentar de volumen con contenido líquido fluctuante. Fue puncionado en dos ocasiones obteniéndose líquido serohemático; al no resolver y continuar aumentando de tamaño, se le plantea que es portador de un hematoma seroso de Morel Lavallée, que se produce por la fricción entre el tejido celular subcutáneo y la fascia. Su localización es infrecuente en la rodilla por lo que se decide presentar el caso ya que en la literatura revisada; no aparece ningún caso descrito. Por lo que constituye el objetivo principal de este trabajo, describir su proceder y la eficacia del tratamiento quirúrgico, con el que se obtuvo resultado satisfactorio (AU).

ABSTRACT We present the case of a patient aged 36 years, with antecedents of achondroplasia who 7 months ago suffered a non serious traumatic lesion in the right knee. The volume of the lesion began to increase with a fluctuant fluid contain. It was punctured twice draining serohematic fluid; it did not solve and the size increased more and more, so the patient was said that he had a serous Morel Lavallée hematoma, produced by the friction between the subcutaneous cell tissue and fascia. Its location in the knee is infrequent and it was not found any case like this in the reviewed literature; therefore we decided to present the case. The main objective of our work was describing it, showing the procedure and efficacy of the surgical that gave a satisfactory result (AU).

Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.

Natural history of 39 patients with Achondroplasia

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.

Spinal anesthesia for cesarean section in a patient with achondroplasia: case report / Anestesia espinal para cesárea segmentaria en paciente con acondroplasia: reporte de caso

Abstract Introduction: The perioperative management of achondroplastic pregnant patients that will undergo lower segment cesarean section represents a clinical challenge to the anesthesiologist. Objective: To describe the anesthetic management of a pregnant patient with achondroplasia, programed for lower segment cesarean section using single-dose regional subarachnoid anesthesia, and to review the general guidelines for anesthetic management emphasizing the role of anesthesia in these patients. Methods: Case report and subject review. Results: The case of a first pregnancy in an achondroplastic, 117-cm tall patient and 38.5 weeks of gestation, programed for lower segment cesarean section is discussed. The patient received single-dose subarachnoid regional anesthesia and adjuvant opioids, with satisfactory results. Conclusion: The ideal anesthetic technique is controversial and the decision shall be based on the individual patient characteristics. The spinal technique, as the anesthetic approach to lower segment cesarean section, was satisfactory and safe in this particular patient.

Resumen Introducción: El manejo perioperatorio de pacientes acondroplásicas embarazadas que van ser llevadas a cesárea segmentaria representa un reto clínico para el anestesiólogo. Objetivo: Describir el manejo anestésico de una paciente gestante con acondroplasia programada para cesárea segmentaria utilizando anestesia regional subaracnoidea con dosis unica y realizar una revisión acerca de las pautas generales del manejo anestésico destacando el papel de la anestesia regional en este tipo de pacientes. Métodos: Reporte de caso y revisión de tema. Resultados: Presentamos el caso de una primigestante acondroplásica de 38.5 semanas y altura de 117 cm programada para cesárea segmentaria a la que se realizó una técnica anestésica regional tipo subaracnoidea con dosis única de anestésico local más coadyuvante opioide con resultados satisfactorios. Conclusiones: La técnica anestésica ideal para emplear es controversial y debe ser decidido con base en las características individuales de cada paciente. La técnica espinal fue satisfactoria y segura en esta paciente en particular como técnica anestésica para cesárea segmentaría.

Acondroplasia e suas implicações neurocirúrgicas em uma série de casos pediátricos / Achondroplasia and its neurosurgical implications in a series of pediatric cases

Introdução: A acondroplasia é causada por uma mutação no gene FGFR3 , sendo uma das formas mais comuns de displasia esquelética. Sua incidência é de 1 a cada 10.000 a 30.000 nascidos vivos. Alguns casos podem desenvolver complicações neurocirúrgicas que podem levar ao óbito. Objetivos: Descrever as principais intercorrências neurocirúrgicas nos pacientes acondroplásicos bem como estabelecer a frequência e as manifestações da estenose de junção craniocervical e da hidrocefalia nos pacientes acompanhados num centro de referência entre janeiro de 2015 e dezembro de 2017. Materiais e Métodos: Estudo observacional de 31 pacientes, retrospectivo para os dois primeiros casos e prospectivo para os 29 casos seguintes. O estudo foi conduzido de forma a identificar e analisar os fatores de risco associados a estenose de canal cervical por compressão do forame magno e a hipertensão intracraniana na hidrocefalia. Os dados foram coletados através de ficha própria preenchida durante consulta médica no ambulatório de Neurocirurgia do Instituto Fernandes Figueira/ Fiocruz e através da revisão dos prontuários da mesma instituição. Foram analisadas variáveis relacionadas ao diâmetro do forame magno e dos ventrículos cerebrais na tomografia computadorizada e na ressonância magnética, necessidade de cirurgia para descompressão da junção craniocervical ou terceiroventriculostomia endoscópica, exame físico e neurológico e fatores relacionados a história familiar. Resultados: Dos 31 pacientes do estudo, sete foram submetidos a cirurgia de descompressão craniocervical por apresentarem sinais de sofrimento medular e alteração dos reflexos tendinosos. Não encontramos relação significativa entre o diâmetro ventricular e sinais de hidrocefalia nos pacientes estudados. A terceiroventriculostomia endoscópica foi realizada com sucesso em uma paciente que apresentou alterações de fundo de olho com edema de papila óptica, hipertensão arterial e crises convulsivas. Conclusões: Apesar da amostra reduzida de 31 pacientes, os achados foram compatíveis com a literatura. As complicações neurocirúrgicas mais frequentes encontradas nos pacientes acondroplásicos da série foi a estenose de junção craniocervical em 22,5% dos casos e a hidrocefalia em 3,2%. O diâmetro do forame magno esteve diretamente relacionado aos sintomas de compressão medular nos pacientes desta série. A complicação cirúrgica evitável mais frequente foi a abertura dural acidental. A terceiroventriculostomia endoscópica foi realizada em um único paciente e observamos que o diâmetro ventricular não deve ser utilizado como parâmetro para indicação de cirurgia para derivação ventricular nesses pacientes pois a maioria deles apresenta macrocefalia devido à ventriculomegalia.

Introduction: Achondroplasia is caused by a mutation of the FGFR3 gene and is one of the most common forms of skeletal dysplasia. Its incidence is one for every 10,000 to 30,000 born alive. Some cases may develop neurosurgical complications that can lead to death. Objectives: To describe the main neurosurgical complications in patients with achondroplasia as well as to establish the frequency and manifestations of craniocervical junction stenosis and hydrocephalus in patients followed up in a reference center between January 2015 and December 2017. Materials and Methods: Observational study of 31 patients, retrospective for the first two cases and prospective for the remaining 29 cases. The study was conducted to identify and analyze the risk factors associated with cervical canal stenosis by compression of the foramen magnum and intracranial hypertension in the hydrocephalus. The data were collected through study specific records filled during medical consultation in the neurosurgery clinic of the Instituto Fernandes Figueira/Fiocruz and through the revision of the records of the same institution. Variables related to the diameter of foramen magnum and cerebral ventricles were analyzed in computerized tomography and magnetic resonance imaging, necessity of surgery for decompression of the craniocervical junction or endoscopic third ventriculostomy, physical, neurological examination and factors related to family history. Results: Among the 31 patients in the study, seven underwent craniocervical decompression surgery after displaying signs of medullary suffering and alteration of tendon reflexes. We did not find a meaningful relationship between the ventricular diameter and the signs of hydrocephalus in the patients studied. Endoscopic third ventriculostomy was performed on one patient, successfully, that presented alterations of eye background with optic papilla edema, arterial hypertension, and convulsive crises. Conclusions: Despite the reduced sample of 31 patients, the findings were compatible with the literature. The most frequent neurosurgical complications found in patients with achondroplasia in the series were craniocervical junction stenosis in 22.5% of cases and hydrocephalus at 3.2%. The diameter of the foramen magnum was directly related to the symptoms of spinal cord compression in the patients of this series. The most frequent avoidable surgical complication was the accidental dural opening. Endoscopic third ventriculostomy was performed on a single patient and we observed that the ventricular diameter should not be used as a parameter for indication of ventricular shunt surgery in these patients because most of them presents macrocephaly due to ventriculomegaly.

Estenosis acueductal en acondroplasia: a propósito de un caso / Aqueductal Stenosis in Achondroplasia: a Clinical Case Report

Resumen: La acondroplasia es la condición asociada a talla baja desproporcionada más frecuente, caracterizada por un crecimiento óseo anormal, que resulta en talla baja con extremidades cortas e inteligencia normal. Una de las complicaciones más habituales es la compresión medular, que puede ocurrir a cualquier nivel, siendo más frecuente en la unión cráneo cervical, generando alta morbimortalidad en los primeros años de vida, principalmente por muerte súbita. Presentamos una paciente de 1 año 10 meses con diagnóstico precoz de acondroplasia, que presentó en su evolución estenosis acueductal con compresión medular, sintomática, pesquisada en control rutinario, que requirió cirugía descompresiva con buena evolución posterior. Palabras clave: Acondroplasia, estenosis acueductal, compresión medular sintomática, hidrocefalia, craniectomía suboccip

Achondroplasia is the most frequent cause of disproportionate short stature, it is characterized by abnormal growth of long bones, rendering a short-limbed individual of normal intelligence. A serious potential complication is spinal compression, which can happen at any level but is particularly common at the craniocervical junction. It can cause important morbidity during the first few years of life, including sudden death. We present a 22-monthold patient diagnosed with achondroplasia, who developed aqueductal stenosis with symptomatic spinal cord compression, diagnosed during a routine consultation, requiring decompressive surgery with excellent results. Key words: Achondroplasia, aqueductal stenosis, symptomatic spinal cord compression, hydrocephalus, suboccipital craniectomy.

A diagnosis of hypochondroplasia by next generation sequencing

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated in the chromosome surveys, 31 laboratories participated in the fluorescence in situ hybridization surveys, and 133 laboratories participated in the molecular genetics surveys. All except one laboratory showed acceptable results in the cytogenetics surveys. The molecular genetics surveys included the following tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemias and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2 ), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome (FMR1), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, cytochrome P450 2C9 genotyping, cytochrome P450 2C19 genotyping, and DNA sequencing analysis. The molecular genetics surveys showed excellent results for most of the participants. The external quality assessment program for genetics analysis in 2015 proved to be helpful for continuous education and the evaluation of quality improvement.

Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2014 based on cytogenetics and molecular genetics surveys. A total of 44 laboratories participated in the chromosome surveys, 33 laboratories participated in the fl uorescence in situ hybridization (FISH) surveys, and 130 laboratories participated in the molecular genetics surveys as a part of these trials. All laboratories showed acceptable results in the chromosome and FISH surveys. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, nonsyndromic hearing loss and deafness (GJB2), multiple endocrine neoplasia 2 (RET), Leber hereditary optic neuropathy (major mutation), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, and DNA sequencing analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2014 proved to be helpful for continuous education and the evaluation of quality improvement.

Limb Lengthening in Patients with Achondroplasia

PURPOSE: Although bilateral lower-limb lengthening has been performed on patients with achondroplasia, the outcomes for the tibia and femur in terms of radiographic parameters, clinical results, and complications have not been compared with each other. We proposed 1) to compare the radiological outcomes of femoral and tibial lengthening and 2) to investigate the differences of complications related to lengthening. MATERIALS AND METHODS: We retrospectively reviewed 28 patients (average age, 14 years 4 months) with achondroplasia who underwent bilateral limb lengthening between 2004 and 2012. All patients first underwent bilateral tibial lengthening, and at 9-48 months (average, 17.8 months) after this procedure, bilateral femoral lengthening was performed. We analyzed the pixel value ratio (PVR) and characteristics of the callus of the lengthened area on serial radiographs. The external fixation index (EFI) and healing index (HI) were computed to compare tibial and femoral lengthening. The complications related to lengthening were assessed. RESULTS: The average gain in length was 8.4 cm for the femur and 9.8 cm for the tibia. The PVR, EFI, and HI of the tibia were significantly better than those of the femur. Fewer complications were found during the lengthening of the tibia than during the lengthening of the femur. CONCLUSION: Tibial lengthening had a significantly lower complication rate and a higher callus formation rate than femoral lengthening. Our findings suggest that bilateral limb lengthening (tibia, followed by femur) remains a reasonable option; however, we should be more cautious when performing femoral lengthening in selected patients.

Achondrogenesis: A Lethal Chondrodystrophy.

Achondrogenesis is a type of skeletal dysplasia. Skeletal dysplasias are the heterogeneous class of bone growth disorders resulting in abnormal shape and size of the skeleton. Here, we present a rare case of achondrogenesis which was delivered by induced abortion at 6½ months of gestation. The physical, radiological, and ultrasonographic examinations done raised the possibility of this very rare anomaly. Achondrogensis is characterized by extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. This rare condition has got genetic mutations associated with it. Achondrogenesis resembles other chondrodystrophies, therefore, its diagnosis needs to be made promptly and accurately.

Displasia tanatofórica: una reflexión bioética a partir de un caso clínico / Thanatophoric dysplasia: case-based bioethical analysis

El presente artículo muestra un caso de displasia tanatofórica, diagnosticado en el período prenatal bajo criterios ultrasonográficos. Se describe la evolución del embarazo hasta el nacimiento, así como la evolución postnatal del producto. Este reporte busca invitar a la reflexión bioética y retomar sus principios apelando a la otredad y a la dignidad humana, en particular del binomio madre e hijo y su entorno familiar. En este sentido, un diagnóstico precoz permite acompañar a los padres para afrontar el proceso evolutivo de esta patología, e incluso un desenlace fatal.

This paper presents a case report of thanatophoric displasia diagnosed in the prenatal period using ultrasound standards. The course of the case pregnancy, birth process, and postnatal period is described. This report invites bioethical analysis using its principles, appealing to human dignity, diversity and otherness, particularly in the mother-child dyad and their family. An early diagnosis allows parental support as they face the course of this condition and its potentially fatal outcome.

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013) / 임상검사와정도관리

Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for Clinical Laboratories performed two trials for cytogenetics and molecular genetics surveys in 2013. A total of 43 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the fluorescent in situ hybridization surveys, and 122 laboratories participated in the molecular genetics surveys in 2013. Almost all of them showed acceptable results. However, some laboratories had unacceptable results for karyotype nomenclature, detection of complex cytogenetic abnormalities in hematologic neoplasms and constitutional anomalies. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, fms-related tyrosine kinase 3, Nucleophosmin, cancer-associated genes (KRAS, EGFR and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy associated with ragged-red fibers, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, Fragile X syndrome, non-syndromic hearing loss and deafness (GJB2), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping and DNA sequence analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2013 was proved to be helpful for continuous education and evaluation of quality improvement.