Artroplastia total de cadera con tallo de revisión en un paciente con exostosis múltiple hereditaria y osteoartritis secundaria / Total hip arthroplasty with revision stem in hereditary multiple exostoses with secondary osteoarthritis

Presentamos a una mujer de 42 años con antecedente de exostosis múltiple hereditaria, y dolor y limitación de la movilidad de la cadera izquierda. Los estudios radiográficos mostraron osteoartrosis y exostosis femoral con displasia bilateral de cadera y subluxación de la cabeza femoral. Se realizó una artroplastia total de cadera izquierda con un implante no cementado modular. El resultado a los 7 años fue excelente. El objetivo de este artículo es mostrar una opción alternativa de reconstrucción para las deformidades complejas. Nivel de Evidencia: IV

We present a 42-year-old woman with a history of hereditary multiple exostoses (HME), with pain and limited range of motion of the left hip. Radiographic studies showed osteoarthritis added to femoral exostosis with bilateral hip dysplasia and femoral head subluxation. Total left hip replacement was performed using a modular uncemented implant with excellent postoperative results at 7 years of follow-up. Level of Evidence: IV

Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO).@*METHODS@#Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.@*RESULTS@#A heterozygous nonsense variant (c.1911C>A) was found in exon 10 of the EXT1 gene in the proband and his affected father but not in a healthy sister and normal controls. The variant was classified as a pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (PVS1+PM2+PP1). Bioinformatic analysis predicted that the c.1911C>A variant may be disease-causing via nonsense-mediated mRNA decay and anomalous splicing.@*CONCLUSION@#The c.1911C>A variant probably underlay the disease in this pedigree. Discovery of this variant enriched the variant spectrum of HMO.

Exostosis múltiple hereditaria presentación de caso / Multiple hereditary exostosis. Case report

RESUMEN La exostosis hereditaria múltiple es un trastorno autosómico dominante que se suele presentar en las dos primeras décadas de la vida. Caracterizada por el remodelado metafisaria alterado y crecimiento óseo asimétrico con acortamiento secundario de los huesos de las extremidades. Estas exostosis óseas rodeadas de cartílagos se hacen prominentes a las partes blandas, se diferencia de la enfermedad de Ollier en que esta última no es hereditaria. Se presentó el caso de una mujer de 36 años, que presentaba acortamiento de los miembros especialmente, cubito y radio, metacarpianos y metatarsianos. Su hijo de 18 años afectado también de dicha enfermedad presentaba una deformidad de Madelung asociada (acortamiento de cubito y radio con arqueamiento del radio) (AU).

ABSTRACT Multiple hereditary exostosis is an autosomal dominant disorder, usually found in the first two decades of life. It is characterized by the altered metaphyseal remodeling and asymmetric bone growth with a secondary shortening of extremities bones. These bone exostoses surrounded by cartilages become prominent to the soft parts, and are different from the Ollier disease because this last one is not hereditary. The authors present the case of a woman, aged 36 years, presenting a shortening of the members, especially ulna and radius, metacarpus and metatarsus. Her 18-years-old son was also affected by this disease, having an associated Madelug deformity (shortening of ulna and radius, and radius bowing) (AU).

Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders

BACKGROUND: There is a paucity of literature on the use of hip arthroscopy for pathologic conditions in skeletally immature patients. Thus, the indications and safety of the procedure are still unclear. The purpose of this study was to investigate the safety and functional outcomes of hip arthroscopy for pediatric and adolescent hip disorders. We further attempted to characterize arthroscopic findings in each disease.METHODS: We retrospectively reviewed 32 children and adolescents with hip disorders who underwent 34 hip arthroscopic procedures at a tertiary care children's hospital from January 2010 to December 2016. We evaluated functional limitations and improvement after operation by using the modified Harris hip score (HHS), the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), subjective pain assessment with a visual analog scale (VAS), and range of hip motion as well as the complications of hip arthroscopy. Arthroscopic findings in each disease were recorded.RESULTS: Hip arthroscopy was performed for Legg-Calvé-Perthes disease (n = 6), developmental dysplasia of the hip (n = 6), slipped capital femoral epiphysis (n = 5), idiopathic femoroacetabular impingement (n = 6), sequelae of septic arthritis of the hip (n = 3), hereditary multiple exostosis (n = 2), synovial giant cell tumor (n = 3), idiopathic chondrolysis (n = 2), and posttraumatic osteonecrosis of the femoral head (n = 1). Overall, there was a significant improvement in the modified HHS, WOMAC, VAS, and range of hip motion. Symptom improvement was not observed for more than 18 months in four patients who had dysplastic acetabulum with a labral tear (n = 2) or a recurrent femoral head bump (n = 2). There were no complications except transient perineal numbness in five patients.CONCLUSIONS: Our short-term follow-up evaluation shows that hip arthroscopy for pediatric and adolescent hip disorder is a less invasive and safe procedure. It appears to be effective in improving functional impairment caused by femoroacetabular impingement between the deformed femoral head and acetabulum or intra-articular focal problems in pediatric and adolescent hip disorders.

Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).@*METHODS@#Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes.@*RESULTS@#DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report.@*CONCLUSION@#Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.

Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis / 中华医学遗传学杂志

OBJECTIVE@#To detect EXT1 and EXT2 gene mutations in two pedigrees affected with hereditary multiple exostosis (HME).@*METHODS@#The coding regions and exon/intron boundaries of the EXT1 and EXT2 genes were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the probands, their family members and 200 unrelated healthy controls. Gross deletion was confirmed by quantitative PCR (qPCR) analysis and multiple ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#Two mutations were detected in the pedigrees, which included EXT2 gene c.337_338insG mutation in pedigree 1 and deletion of entire EXT1 in pedigree 2. Analysis of sequencing data revealed that a novel heterozygous mutation (c.337_338insG) in EXT2 gene in proband 1 and his father. The same mutation was not found among healthy family members and 200 unrelated healthy controls. As shown by NGS and MLPA analysis, proband 2 carried a heterozygous deletion of entire EXT1 gene. The same deletion was also found in her mother by qPCR.@*CONCLUSION@#Mutations of the EXT1 and EXT2 genes probably underlie the HME in both pedigrees. NGS combined with Sanger sequencing, qPCR and MLPA is effective for attaining the diagnosis.

Estudio clínico y molecular en una familia con osteocondromatosis múltiple / Clinical and molecular study in a family with multiple osteochondromatosis

Resumen: Se presentan dos casos de una familia con diagnóstico de osteocondromatosis múltiple, el cual fue confirmado por estudio molecular con mutación sin sentido en heterocigosis c.1219C>T, (p.Gln407Stop) en el gen EXT1. En el primer caso, en un paciente se presentó deformidad de Madelung como hallazgo infrecuente y en el otro caso, condrosarcoma como complicación temida, resaltando la variación intrafamiliar, por lo que se recomienda la evaluación individual e interdisciplinaria. Además, ante una entidad genética debe brindarse el adecuado y oportuno asesoramiento genético familiar a todos sus integrantes.

Abstract: We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219C>T, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.

Osteochondroma of the Distal Clavicle: A Rare Cause of Impingement and Biceps Tear of the Shoulder

Hereditary multiple exostosis (HME) is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Although the lesions are benign in nature, exostoses are often associated with characteristic progressive skeletal deformity and displaying clinical symptoms such as mechanical irritation or impingement. We present the successful arthroscopic resection in a 24-year-old HME male with impingement syndrome and long head tendon tear of the biceps caused by osteochondroma arising from the distal clavicle.

Heterotopic Ossification of the Xiphoid Process after Abdominal Surgery for Traumatic Hemoperitoneum

Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. The patient underwent surgical excision of the elongated mass of the xiphoid process. Histopathology revealed multiple exostoses. Heterotopic ossification can occur after surgical trauma to soft or bone tissue. Surgical excision with primary closure is the treatment of choice for symptomatic heterotopic ossification.

Incontinencia urinaria de esfuerzo por osteocondroma familiar múltiple tardío / Urinary incontinence due to late multiple family osteochondroma

La osteocondroma múltiple familiar hereditaria es una enfermedad benigna, que por su posibilidad de malignización y el avance de sus deformaciones requiere controles periódicos. El objetivo del trabajo fue presentar un caso con diagnóstico de un tumor después de un largo periodo de tiempo de extirpación de su última lesión. Se presenta una paciente, de 62 años de edad, con antecedentes de osteocondroma múltiple familiar hereditaria desde los 8 años de edad. Es operada en varias ocasiones durante la infancia. Acude ahora por presentar incontinencia urinaria y aumento de volumen región vaginal, que aumentó en los últimos 8 meses. Antecedentes de la enfermedad en el padre, el hijo y la nieta. Se observan cicatrices en miembros y deformidades. Al tacto vaginal y rectal se encontró un tumor pétreo que ocupa la pared anterior y lateral derecha de la vagina. En estudios radiográficos y tomografía axial computarizada de abdomen se observa tumor en rama isquiopubiana derecha. La paciente fue operada y realizó la resección del tumor. La evolución fue satisfactoria. Anatomía Patológica informó tumor de 6 x 5 cm con actividad elevada de los condrotocitos. En la paciente destaca la aparición de un tumor de la misma enfermedad en la rama isquiopubiana, localización de baja frecuencia, el cual apareció 50 años después del último extirpado. La laparotomía extraperitoneal fue excelente para lograr la exéresis del tumor(AU)

Hereditary family multiple osteochondroma is a benign disease that requires systematic control on account of its possible malignization and advance of deformations. The objective of this paper was to present a patient diagnosed with a tumor after a long period of time elapsed from the excision of her last lesion. Here is a female patient aged 62 years, with history of hereditary family multiple osteochondroma since she was 8 years-old. She had been operated on several times in her childhood. She went to the hospital because she suffered urinary incontinence and volume increase in the vaginal region for the last 8 months. Her father, son and niece had the same problem. Scars and deformities were observed in limbs. On the vaginal and rectal exam, a stony tumor was found, which occupied the right anterior and lateral wall of the vagina. The radiographic studies and the abdominal CT showed a tumor in the right ischiopubic ramus. The patient was operated on to remove the tumor and her progress was satisfactory. The pathological anatomy report confirmed a 6 x 5 cm tumor with high activity of chondrocytes. In this patient, a tumor of the same disease located in the ischiopubic ramus occurred 50 years after the last excision of another tumor. The extroperitoneal laparatomy was an excellent method to achieve tumor excision(AU)

Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism.</p><p><b>METHODS</b>The coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Transcripts of the EXT1 gene in the proband were analyzed by TA clone-sequencing, with its abundance compared with that of healthy controls.</p><p><b>RESULTS</b>DNA sequencing has identified in the proband a novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene. The same mutation was not found in the healthy controls. Bioinformatics analysis indicated that the mutation is highly conserved and can lead to skipping of exon 3 or aberrant splicing. TA clone-sequencing indicated that the numbers of transcripts with skipping of exon 3 has significantly increased in the proband (< 0.05) compared with the controls.</p><p><b>CONCLUSION</b>The c.1164+1G to A mutation has resulted in skipping of exon 3 in a proportion of EXT1 gene transcripts. As the result, the number of transcripts with tumor suppressing function is relatively reduced and has ultimately led to the tumors.</p>

Autologous Fat Grafting as a Last Resort for Unsustainable Pain in a Woman with Multiple Osteochondromas

Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available. Patients can be treated symptomatically by surgical removal of painful osteochondromas. Unfortunately, some patients still suffer from severe pain, even after surgery. We report on a case concerning a 48-year-old woman with a history of MO who presented with persistent pain after surgical removal of a symptomatic osteochondroma of the left scapula and multiple symptomatic osteochondromas of the left foot and trochanteric region. Several interventions to reduce the pain did not have any lasting effect. Subsequently, she was treated with autologous fat grafting (AFG). After each session she was pain-free for at least one year and reported only partial recurrence of the pain. This is the first case report describing AFG for the treatment of pain after both surgical removal of an osteochondroma and symptomatic osteochondromas in a patient suffering MO with promising results. The treatment is more effective and clearly continues to remain active longer than injection therapy or pain medication. Future studies are necessary to confirm our results.

Condrosarcoma de bajo grado originado de parrilla costal en un paciente con exostosis múltiple / Low grade chondrosarcoma originated from ribcage in patient with multiple exostosis

Se presenta el caso de un paciente masculino de la tercera década de la vida, con historia clínica de una tumoración pétrea en parrilla costal izquierda, de dos años de evolución, de crecimiento progresivo, con antecedentes familiares de exostosis hereditaria múltiple (EHM). Se exponen los estudios de imágenes e histopatológicos, haciendo una correlación que estableció el diagnóstico definitivo de condrosarcoma de bajo grado (grado I) originado en un osteocondroma del tipo similar a coliflor.

Quality of Life in Patients with Osteochondromatosis / 대한정형외과학회잡지

PURPOSE: The purpose of this study is to help predict the prognosis of multiple osteochondromatosis patients with the investigation of social function, pain, physical function and quality of life of patients. MATERIALS AND METHODS: Forty-five cases were diagnosed as multiple osteochondromatosis from March 1993 to June 2014. We performed a survey on pain, daily life, school or work life assessment of research and development-36. Forty-five people who responded to the survey completely were enrolled. Variable factors, including physical functioning, role limitations due to physical health, role limitations due to emotional problems, energy/fatigue, emotional well-being, social functioning, pain, and general health state were considered as elements related to quality of life. In addition, we investigated significant factors for multiple osteochondromatosis patients, and analyzed the survey by scoring. Related factors included age (over 18 years and under 18 years), gender, body mass index, operation, joint deformity, recurrence of disease, family history, the number of involved joints and the location of tumor. Statistical analyses were performed using SAS ver. 9.3 (SAS Inc., Cary, NC, USA). p-values of <0.05 were deemed statistically significant. RESULTS: Patients with a family history of multiple osteochondromatosis showed a significantly decreased result of assessment, physical function, vitality of life, social activities, and health state. In addition, there was a tendency of a poor influence in pain, emotional wellbeing, and general health. CONCLUSION: The results suggest that family history is a significant factor influencing and predicting the quality of life. In other words, the developed patients in the household including patients with severe enough for the rest of the family to know have poor prognosis. Through this study multiple osteochondromatosis is a chronic disease having a profound impact on quality of life.

Tumor de células gigantes de tibia proximal en osteocondromatosis múltiple / Tumeur à cellules géantes et ostéochondromatose multiple au niveau du tibia proximal / Giant cell tumor of proximal tibia in multiple osteochondromatosis

El evento de dos tumores óseos primarios en estrecha relación es raro. Se presenta el caso de un paciente con tumor óseo de células gigantes al mismo tiempo que osteocondromatosis múltiple en tibia proximal, lo que no ha sido reportado antes en la literatura. Aunque el reporte histopatológico confirma la coexistencia de las dos neoplasias en el mismo segmento anatómico con un componente aneurismático agregado, el reporte de genética no demostró una asociación necesaria entre las dos neoplasias. Se precisa una investigación más extensa para discernir la existencia de un trasfondo genético común(AU)

The event of closely two-primary bone tumors is rare. A case of a patient with bone giant cell tumor while multiple osteochondromatosis in proximal tibia occurs is presented here. It has not been reported before in literature. Although the pathology report confirms the coexistence of the two neoplasms in the same anatomical aneurysmal segment with added component, the report did not demonstrate a necessary genetic association between the two neoplasms. Further investigation is needed to discriminate the existence of a common genetic background(AU)

La survenue d'une tumeur osseuse primaire en étroite relation avec une autre est assez rare. Le cas d'un patient atteint d'une tumeur osseuse à cellules géantes et d'une ostéochondromatose multiple au niveau du tibia proximal est présenté. On n'a jamais rapporté rien de pareil dans la littérature. Quoique le rapport d'histopathologie confirme la localisation de deux néoplasies dans le même segment anatomique, avec un élément anévrismal ajouté, le rapport de génétique n'a pas démontré une relation entre ces deux tumeurs. Il faut une étude plus exhaustive pour déterminer une origine génétique commune(AU)

Exostosis múltiple hereditaria: reporte de una familia / Hereditary multiple exostoses: report of a family

FUNDAMENTO: el osteocondroma es el tumor óseo benigno frecuente en la edad pediátrica y la exostosis múltiple hereditaria en sus variedades, con un patrón de herencia autosómica dominante, con distribución simétrica por casi todo el esqueleto, aunque puede existir distribución asimétrica en dos de los tres genotipos de la enfermedad. OBJETIVO: presentar una familia portadora de exostosis múltiple hereditaria, diagnosticada de forma multidisciplinaria, por aspectos clínicos, radiológicos e histopatológicos. CASO CLINICO: se presenta un caso de una familia con malformaciones músculos esqueléticos. Predominó la estatura baja y las lesiones nodulares duras no dolorosas en brazos, antebrazos, muslos, piernas, costillas y escápulas, con deformidades en regiones proximales y distales en ambos brazos, antebrazos; así como en tercio proximal y distal de las piernas. En las radiografías se observaron lesiones en la diáfisis de los huesos afectados de diferentes aspectos, ovaladas, lobuladas y alargadas, las cuales están bien delimitadas. A todos los pacientes se les realizó exámenes de laboratorio, los cuales fueron normales y recibieron tratamiento quirúrgico con resección de las tumoraciones más prominentes y las que presentaron mayor tendencia a la malignización, como son las de las costillas, escápula, pelvis y hombros. CONCLUSIONES: la exostosis múltiple hereditaria se considera una enfermedad poco frecuente en nuestro medio y el tratamiento de elección es el quirúrgico para mejorar las manifestaciones clínicas.

BACKGROUND: osteochondroma is the most common benign osseous tumor in pediatric age and hereditary multiple exostoses is one of its types with a pattern of dominant autosomal heredity and a symmetrical distribution in almost all the skeleton, although an asymmetrical distribution can appear in two of the three genotypes of the disease. OBJECTVE: to present the case of a family that suffers from hereditary multiple exostoses diagnosed in a multidisciplinary way from clinical, radiological, and histopathological aspects. CLINICAL CASE: the case of a family with muscular-skeletal malformations is presented. Short height predominated, as well as non-painful hard nodular lesions in arms, forearms, thighs, legs, ribs, and scapulas with deformities in proximal and distal areas in both arms and forearms and in the proximal and distal third of the legs. From the radiological point of view, lesions of different aspects (oval, lobate, elongated) and of well-defined appearance were observed in the diaphysis of the affected bones. All the patients underwent laboratory exams, the results of which were normal. The patients underwent surgical treatment with removal of the most prominent tumors and mainly those which presented a greater tendency to become malignant, like rib, scapula, pelvis and shoulder. CONCLUSIONS: hereditary multiple exostoses constitute an infrequent illness in our environment and surgical treatment is the best choice to improve the clinical manifestations.

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditariaDouble mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostosesdisease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

A Case of Langer-Giedion Syndrome with a De Novo Del(8)(q23q24.1)

Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose redundant skin are distinguishing features, as well as lax joints and phalangeal abnormalities of the hands and multiple exostoses. TRPS1 and EXT1 gene deletion are responsible for this. Diagnosis is mainly based on clinical and radiographic features. In Korea, no cases of this disease have been reported thus far. Along with a review of the literature, we report a case of TRPSII in a neonate who had peculiar face representing TRPSII, polydactyly, Mullerian duct cyst, and ptosis and was found to have an interstitial deletion of 8q23-24.1.