Traqueobroncopatía osteocondroplástica: reporte de cuatro casos clínicos / Osteochondroplastic tracheobronchopathy: Four case reports

Introducción La traqueobroncopatía osteocondroplástica es una rara enfermedad crónica benigna de etiología desconocida. La broncoscopía sigue siendo el estándar de oro para el reconocimiento de traqueopatía osteocondroplástica. Sus hallazgos típicos se describen como un empedrado, un jardín de rocas, una apariencia de paisaje montañoso o de una cueva con estalactitas. El objetivo del presente trabajo es mostrar las principales características clínicas de una patología poco conocida. Casos clínicos Se analizaron los datos clínicos de cuatro pacientes de mediana edad, tres fueron hombres y una mujer. Los principales síntomas clínicos fueron tos crónica, disnea, disfonía. Los pacientes tuvieron un diagnóstico preliminar mediante tomografía axial computarizada de tórax, confirmado por examen video broncoscópico e histopatológico. El tratamiento incluyó medicamentos para los síntomas y en un solo caso criocirugía y coagulación con argón plasma. Discusión El diagnóstico de traqueobroncopatía osteocondroplástica no fue sencillo por ser una entidad rara, cuyos síntomas son inespecíficos y muy frecuentes en otras patologías. En Perú no se han publicado artículos de serie de casos sobre esta patología. Por lo tanto, tomamos como referencia artículos originales publicados en otros países para compararlos con nuestros hallazgos. Conclusión La traqueopatía osteocondroplástica es una enfermedad benigna que predispone a los adultos, los hombres tienen más probabilidades de verse afectados. Sus manifestaciones clínicas son inespecíficas; frecuentemente de origen faríngeo y la causa no está aún definida. La tomografía axial computarizada de tórax combinada con video broncoscopía son los principales procedimientos para el diagnóstico. No existe un estándar de tratamiento con efectos terapéuticos consistentes.

Introduction Osteochondroplastic tracheobronchopathy is a rare benign chronic disease of unknown etiology. Bronchoscopy remains the gold standard for diagnosing osteochondroplastic tracheobronchopathy. Its typical findings are described as a cobblestone, rock garden, mountainscape, or stalactite cave appearance. The present work aims to show the main clinical features of this rare pathology. Clinical cases The clinical data of four middle-aged patients, three men and one woman, were analyzed. The main clinical symptoms were chronic cough, dyspnea, and dysphonia. The patient's preliminary diagnosis was made by computed axial tomography of the chest, confirmed by bronchoscopy and histopathological examination. Treatment included medication for symptoms and, in one case, cryosurgery and argon plasma coagulation. Discussion Diagnosing osteochondroplastic tracheobronchopathy was not easy, given its uncommon nature and non-specific symptoms often found in other pathologies. No case series articles on this pathology have been published in Peru. Therefore, we used the original articles published in other countries to reference our findings. Conclusion Osteochondroplastic tracheopathy is a benign disease that typically affects adults. Men are more likely to be affected. Its clinical manifestations are non-specific and frequently of pharyngeal origin, and the cause is not yet defined. Chest computed axial tomography combined with bronchoscopy are the main diagnostic procedures. There is no standard treatment with consistent therapeutic effects.

Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia / 罕见病研究

Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can exacerbate spinal stenosis, leading to neurological complications. This paper provides a brief review of the pathophysiological mechanisms, clinical characteristics, and treatments for spinal stenosis and TLK in ACH patients. Recently, three new drugs targeting FGFR3; vosoritide, recifercept, and infigratinib, have completed or are undergoing clinical trials. They have shown promising preliminary results in preventing spinal stenosis and TLK.

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.

Physical therapy treatment in a para-powerlifting and para-swimming athlete with achondroplasia. case report

ABSTRACT Introduction: Achondroplasia is an autoso-mal dominant congenital condition caused by a mutation of the fibroblast growth encoding gene, which affects endochondral ossification. It is the most common cause of disproportionate short stature, generating physical disability. In the presence of disability, adapted sport emerges as a strategy designed to generate inclusion and, thereby, improve the quality of life of disabled people. The aim was to develop a physical therapy plan that included recommendations to minimize the risk of injury and prevent loss of functionality as a consequence of sports practice. Case presentation: This is the case of a 27-year-old Colombian athlete diagnosed with achondroplasia who competes in the para-powerlifting and swimming modalities. Physiotherapeutic and physical fitness evaluations were carried out, finding obesity and postural and gait pattern alterations. The available literature does not recommend practicing these sports in this type of patient; however, a training program and recommendations were designed to preserve her functionality and improve her sports performance. The plan was put into practice and tolerated adequately by the athlete. Conclusions: Training plans that promote the maintenance of optimal physical condition in adapted sports participants allow them to continue practicing their sport without compromising their life expectancy or functionality. The analysis of the present case illustrates how physical therapists play a key role in this population to minimize the possible complications derived from training and competitions.

RESUMEN Introducción. La acondroplasia es una condición congênita causada por una mutación del gen codificador de crecimiento del fibroblasto que afecta la osificación endocondral y genera discapacidad estructural; además, es la causa más común de talla baja desproporcionada. Por su parte, el deporte adaptado es una disciplina deportiva que se ajusta al colectivo de personas con discapacidad y una estrategia diseñada para generar inclusión y mejorar la calidad de vida de sus participantes. Se presenta el caso de una paciente con acondroplasia a quien se le diseñó un plan fisioterapéutico de intervención enfocado a minimizar el riesgo de lesiones y prevenir la pérdida de funcionalidad como consecuencia de la práctica deportiva. Presentación del caso. Paciente femenina de 27 años diagnosticada con acondroplasia y practicante de levantamiento de potencia adaptado y natación paralímpica, a quien mediante valoración fisioterapéutica y de la aptitud física se le encontraron alteraciones posturales y en el patrón de marcha. Dado que por su condición de base no es recomendable que practique los deportes en los cuales compite, se le diseñó un programa de entrenamiento y recomendaciones dirigido a preservar su funcionalidad y mejorar su desempeño en la práctica deportiva. El plan fue puesto en práctica y tolerado de forma adecuada por la deportista. Conclusiones. Los planes de entrenamiento que favorezcan el mantenimiento de la condición física óptima de los participantes de deportes adaptados les permiten a estos deportistas realizar su práctica sin afectar su expectativa de vida ni su funcionalidad. El análisis del presente caso muestra cómo el fisioterapeuta desempeña un rol importante en esta población, pues los puede ayudar a disminuir las posibles complicaciones que se deriven de entrenamientos y competencias.

Achondroplasia: a case report and the review of the basics

The achondroplasia is a variant of short-limbed dwarfism. The word achondroplasia literally means without cartilage formation. However, in achondroplasia the problem is not in formation of cartilage but, in its conversion to bone (i.e. ossification). This deficient ossification is particularly seen in the long bones of arm and leg. The characteristic external appearance of people born with achondroplasia is short stature. The average height of an adult male with achondroplasia is 131 centimetres (4 feet, 4 inches), and the average height for adult females is 124 centimetres (4 feet, 1 inch). The trunk is of average size but the leg and upper arm is of short length. It is because the femur and humerus are relatively shorter in length. The range of movement at elbow is limited. The head is enlarged called macrocephaly and is with a prominent forehead. People with Achondroplasia are generally of normal intelligence. They have bowed legs and abnormal curvature of spine giving rise to lordosis or kyphosis. They may develop spinal stenosis, which is associated with pain, tingling and weakness in leg. This may cause difficulty in walking. The other health problems associated with Achondroplasia are episodes of apnoea, obesity and recurrent ear infection. The purpose of this study is to evaluate the cardinal phenotypic features in patient of Achondroplasia. It is also to assess the body physique, anthropometric measurements and to study the typical radiological signs in such patients as the main tool of diagnosis.

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.

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.

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.

Perceval S aortic valve implantation in an achondroplastic Dwarf.

Despite cardiovascular disease in patients with dwarfism is not rare; there is a lack of reports referring to cardiac interventions in such patients. Dwarfism may be due to achondroplasia or hormonal growth disorders. We present a 58‑year‑old woman with episodes of dyspnea for several months. She underwent on transthoracic echocardiography, and she diagnosed with severe aortic valve stenosis. She referred to our department for surgical treatment of this finding. In accordance of her anthropometric characteristics and her very small aortic annulus, we had the dilemma of prosthesis selection. We decided to implant a stentless valve to optimize her effective orifice area. Our aim is to present the successful Perceval S valve implantation and the descriptions of the problems coming across in operating on these special patients. To our knowledge, this is the first case patient in which a Perceval S valve is implanted according to the international bibliography.

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.

Prenatal diagnosis and mutation analysis of fibroblast growth factor receptor 3 gene in achondroplasia / 中华围产医学杂志

Objective To explore the value of prenatal genetical diagnosis by mutation analysis of achondroplasia (ACH) fibroblast growth factor receptor 3 (FGFR3) gene.Methods Genomic DNA from nine ACH patients and their parents in Gansu Maternal and Child Health Hospital from July,2010 to December,2014 was prepared for polymerase chain reaction.Direct sequencing revealed the samples were performed after amplification of exon 10 of FGFR3 containing the potential mutation.Fetal DNA was extracted from cells in both amniotic fluid and umbilical cord,and then exon 10 of FGFR3 was also tested.Three fetuses with short-limb dysplasia were also included and prenatal diagnosis was offered to them through amniocentesis or cordocentesis.Results Prenatal ultrasonography test showed shorter femoral length,which was less than 2-3 standard deviation of normal reference dysplasia fetal performance for femoral short.Femur length is lower than 2-3 standard deviation minus normal value,and discrepancy in biparietal diameter compared with fetuses at the same gestational age.In the four families with one ACH parent,c.1138G ＞ A heterozygous mutation was detected in all of the four mothers,while two fetuses among them showed c.1138G ＞ A heterozygous mutation mutation and the other two were normal.There were other two fetuses with c.1138G ＞ A heterozygous mutation from other two families,one's father had c.1138G ＞ A heterozygous mutations,but not the mother,the other had c.1138G ＞ A heterozygous mutations in both the mother and father.Among the three families with unaffected parents but each had a de novo c.1138G ＞ A mutation child,no mutation of c.1138G ＞ A genotype was detected in their fetuses,neither in the three fetus with short limb dysplasia.Four fetuses with a c.1138G ＞ A mutation and three with short-limb dysplasia were terminated.The other five fetuses whose genotype was normal were born and healthy with normal phenotype at one-year-old follow-up.Conclusion FGFR3 genetic analysis could provide information for genetic counseling and prenatal diagnosis for ACH parents or parents who had an ACH baby to prevent birth defect.

A case report of recurrent achondroplasia in fetuses of normal parents.

Achondroplasia, a skeletal dysplasia has an incidence of 1 in 15000 to 1 in 30000 live births. It is inherited in an autosomal dominant manner. The occurrence of recurrent achondroplasia in babies born to normal parents is rare. The present case report is one such type. A female fetus of 27 weeks gestational age was brought to the Department of Anatomy, Karpaga Vinayaga Institute of Medical Sciences, Maduranthagam. There was frontal bossing of forehead, rhizomelic type of limb shortening with limitation of elbow extension in the fetus. The mother of the fetus, who is 26 years old, gave history of recurrence of such condition. Her first pregnancy was a twin pregnancy, conceived by natural methods, where one of the twins was a male baby who also had achondroplasia and died 2 hours after delivery. The other twin is a girl and the child has delayed developmental milestones. Her second pregnancy was uneventful. The present fetus under study is from her third pregnancy. Her marriage is of second degree consanguineous type. The age of her husband is 36 years old. Germinal mosaicism has been attributed for the causation of recurrent achondroplasia in children, whose parents are normal. 80% of a chondroplasia is due to a new mutation. Only 20% of achondroplasia is inherited. Increased paternal age is a risk factor for new mutations to occur. The other investigations of the case and the genetic analysis are described further in the article.

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.

Term Pregnancy in an Achondroplastic Dwarf: A Case Report.

Achondroplasia is a rare disorder occurring in 1 in 15,000 to 1 in 40,000 live births. However, it is the commonest disorder among more than 100 different types of dwarfism. It is inherited as an autosomal dominant trait but most cases (80%) are due to mutations of fibroblast growth factor receptor 3 (FGFR3). These individuals have normal mental and sexual development and life-span may also be normal. However, problems such as pre-eclampsia, polyhydramnios, respiratory compromise, contracted pelvis necessitating lower-segment cesarean section, prematurity and fetal wastage, etc., have been reported. General anesthesia is preferred to regional anesthesia because of spinal abnormalities. The aim of this report is to describe the surgical management of these patients discussing the surgical consideration and emphasizing the difficulties encountered. Such a patient is considered high-risk in terms of anesthesia and obstetric outcome. A case of achondroplasia with pregnancy is reported. A 28-year-old achondroplastic parturient underwent cesarean section under general anesthesia for contracted pelvis. We did not encounter problems related to cesarean section. The most important point is the careful preoperative assessment. Anesthesia plan should be specified to individual basis.

Antenatal diagnosis of achondroplasia.

We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skeletal survey and findings were correlated with radiological skeletal survey after the baby was delivered.

FGFR3 gene mutation analysis of achondroplasia and hypochondroplasia families / 临床儿科杂志

Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dys-chondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in muta-tion hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequenc-ing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achon-droplasia (ACH), while this mutation was absent in their parents. The c.1620C>A missense mutation in exon 13 was found in one girl and her mother who both were diagnosed as hypochondroplasia (HCH) with mild symptoms. Neither mutation men-tioned above was found in the other two probands. Conclusions Through detecting the mutation in exon 10, exon 13 of FGFR3 gene, most patients of ACH or HCH can be finally diagnosed. However, it is necessary to perform the mutation screening on the other zones of FGFR3 gene and on other related genes for a few cases.

Acondroplasia: diagnóstico clínico precoce / Achondroplasia: early clinical diagnosis

A acondroplasia é uma síndrome genética que afetaa ossificação endocondral, sendo uma das causas denanismo. Acomete um recém-nascido em cada oitoa dez mil nascimentos. Embora o defeito genéticotenha caráter autossômico dominante, cerca de 85%dos casos resultam de novas mutações. Os portadoresda acondroplasia apresentam características clínicastípicas como macrocefalia, baixa estatura, membroscurtos com predomínio do segmento proximal e limitaçãoda extensão dos cotovelos. Entretanto, essascaracterísticas clínicas no período neonatal podempassar despercebidas dos pais e pediatras, uma vezque os recém-nascidos normais apresentam os membroscurtos em relação ao tronco, o que dificulta aobservação dessa desproporção. No presente estudode caso, registra-se um caso típico de acondroplasiadiagnosticado imediatamente após o nascimento.

Achondroplasia is a genetic syndrome that affects the endochondralossification, being one of the causes of dwarfism.It affects one newborn in every 8 to 10 thousandbirths. Although the genetic defect is of autosomal dominantorigin, about 85% of cases result from new mutations.The typical clinical features of achondroplasia are macrocephaly,short stature, short limbs with predominanceof the proximal segment and limitation of elbow extension.However, these clinical features may go unnoticedin the neonatal period, since newborns? limbs are shorterin relation to the trunk, making it difficult for parents andpediatricians to notice this disproportion. This case reportdescribes a typical case of achondroplasia diagnosed immediatelyafter birth.