Condrodisplasia punctata ligada ao cromossomo X tipo 1 (CDPX1) - relato de caso com fenótipo atípico / X-linked chondrodysplasia punctata type 1 (CDPX1) - case report with atypical phenotype

A condrodisplasia punctata (CDP) é um grupo de displasias ósseas caracterizadas por calcificações puntiformes nas cartilagens, principalmente epifisárias. Entre as várias formas de CDP, a ligada ao X é rara e foi descrita em 50 pacientes do sexo masculino na literatura. O objetivo deste estudo é descrever um caso atípico de CDPX1 e compará-lo com a literatura prévia. Pré-escolar, sexo masculino, quatro anos, nascido a termo, pequeno para a idade gestacional e sem casos semelhantes na família. Ele evoluiu com baixa estatura desproporcionada, eutrofia, escoliose cervical e dorsal com pectus carinatum, assimetria discreta em membros inferiores, hipertelorismo ocular com esclera azul-acinzentada e queda de cabelo. Não apresentou fraturas ou dores ósseas e teve desenvolvimento neuropsicomotor adequado para a idade. Os exames não mostraram alterações no perfil osteometabólico nem nos hormônios hipofisários. O cariótipo foi 46,XY e o painel genético para displasias esqueléticas mostrou uma variante patogênica em hemizigose no gene ARSL (Arylsulfatase L) chrX:2.934.859 C>T (p.Trp581* ENST00000381134) com diagnóstico de condrodisplasia punctata ligada ao cromossomo X do tipo 1. A CDPX1 está diretamente relacionada à deficiência da atividade da enzima ARSL, o que pode resultar em alterações de desenvolvimento neuropsicomotor, perda auditiva e episódios de insuficiência respiratória. No entanto, estas características não foram apresentadas pelo probando. Assim, o probando apresenta uma forma mais branda de CDPX1. O diagnóstico precoce de displasias esqueléticas como a CDPX1 é importante para o acompanhamento ambulatorial adequado, aconselhamento familiar e prevenção do desenvolvimento de comorbidades a longo prazo.

Chondrodysplasia punctata (CDP) is a group of bone dysplasias characterized by punctate calcifications in the cartilage, mainly epiphyseal. Among the various forms of CDP, the X-linked form is rare and has been described in 50 male patients in the literature. The aim of this study is to describe an atypical case of CDPX1 and compare it with previous literature. Preschooler, male, four years old, born full-term, small for gestational age and with no similar cases in the family. He developed disproportionate short stature, eutrophy, cervical and dorsal scoliosis with pectus carinatum, slight asymmetry in the lower limbs, ocular hypertelorism with blue-gray sclera and hair loss. He did not present fractures or bone pain and had neuropsychomotor development appropriate for his age. The exams showed no changes in the osteometabolic profile or in pituitary hormones. The karyotype was 46,XY and the genetic panel for skeletal dysplasias showed a hemizygous pathogenic variant in the ARSL gene (Arylsulfatase L) chrX:2.934.859 C>T (p.Trp581* ENST00000381134) diagnosed with X-linked chondrodysplasia punctata type 1. CDPX1 is directly related to the deficiency of ARSL enzyme activity, which can result in changes in neuropsychomotor development, hearing loss and episodes of respiratory failure. However, these characteristics were not presented by the proband. Thus, the proband has a milder form of CDPX1. Early diagnosis of skeletal dysplasias such as CDPX1 is important for adequate outpatient follow-up, family counseling and prevention of the development of long-term comorbidities.

X-linked dominant chondrodysplasia punctata 2 with severe phenotype in one female fetus: a case report / 中华围产医学杂志

We reported a female fetus diagnosed with X-linked dominant chondrodysplasia punctata 2 with severe phenotype. The fetus was found with abnormal short limbs, thick metaphysis on the right lower limb and a narrow and small thorax by prenatal ultrasound at 24+5 weeks of gestation. Non-invasive prenatal test indicated the risks of trisomies 21, 18 and 13 were low. The pregnancy was terminated at 27 weeks of gestation and postnatal X-ray imaging showed that the fetus had short femur and humerus, a narrow and small thorax, thickened metaphysis with a "splashed paint spot" pattern, and asymmetric shortened lower limbs. Whole-exome analysis showed that the fetus carried a heterozygous pathogenic mutation c.440G>A (p.Arg147His) in the EBP gene. The mutation was confirmed to be a de novo mutation as neither of her parents carried the same mutation. Thus, the patient was diagnosed as having X-linked dominant chondrodysplasia punctata 2. The severe phenotype of this case migh be related to random X chromosome inactivation.

Enfermedad peroxisomal, condrodisplasia rizomelica punctata tipo 1: reporte de caso / Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report

Introducción: Las enfermedades peroxisomales son un grupo de trastornos monogénicos que incluyen desórdenes en la biogénesis del peroxisoma o deficiencias enzimáticas. La Condrodisplasia Rizomélica Punctata Tipo 1 (RCDP1) pertenece al primer grupo, es autosómica recesiva originada por mutaciones del gen PEX7, que codifica para el receptor PTS2. El objetivo del presente artículo son describir una enfermedad genética de baja prevalencia, explicando sus principales características y la importancia de la aproximación diagnóstica y asesoría genética. Caso clínico: Lactante masculino de 13 meses, sin antecedentes familiares ni consanguinidad. Al nacimiento presentaba acortamiento de miembros superiores. Fue intervenido a los 7 meses por catarata bilateral. Presentaba severo retardo del crecimiento, retraso del desarrollo psicomotor, anomalías menores craneofaciales, acortamiento rizomélico de miembros superiores y en menor grado de miembros inferiores. En la radiografía se identificaban calcificaciones punteadas del cartílago en rótula. Entre los exámenes de laboratorio destacaba elevación de los ácidos grasos fitánico y pristánico. El paciente falleció a la edad de 3 años. Discusión: Esta es una enfermedad rara, la prevalencia es 1/100.000, se han descrito diferentes mutaciones del gen PEX7 teniendo variación en el fenotipo. El tratamiento es básicamente sintomático y depende de la gravedad de las manifestaciones clínicas, el tipo rizomélico es de mal pronóstico, la mayoría de los pacientes no sobrevive antes de la primera década de vida. La asesoría genética es fundamental ya que se considera un riesgo del 25% de recurrencia.

Introduction: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. Case report: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. Discussion: RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.

Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata

X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.

Condrodisplasia metafisaria tipo Schmid: presentación de un caso / Schimd methaphyseal chondrodysplasia: a case presentation

Fundamento: condrodisplasia metafisaria tipo Schmid, forma parte de las displasias óseas poco frecuentes. Se caracteriza por talla baja, genu varum, pélvis pequeña, cifoescoliosis progresiva, deformidad de la muñeca, miopía, huesos largos cortos y displasia metafisaria grave, con cambios moderados en la columna y cambios mínimos en las manos y los pies. Objetivo: presentar un caso con diagnóstico de displasia ósea tratado por un equipo multidisciplinario para su posterior corrección quirúrgica. Caso clínico: paciente femenina de tres años de edad, con deformidad en miembros inferiores que le provocan baja talla por genu varum. Los antecedentes familiares no refieren datos de interés. En los antecedentes personales prenatales, perinatales y posnatales se encontró que el desarrollo fue normal hasta los 16 meses que comienza a caminar y se observa ligera deformidad que fue aumentando. Conclusiones: la condrodisplasia metafisaria tipo Schmid es una enfermedad hereditaria poco frecuente que se presenta con un patrón de herencia autonómico dominante. Al no existir otro miembro de la familia afectado, se planteó que en este caso ocurrió una nueva mutación o mutación de novo. Es necesario indagar acerca de su presencia en un paciente con deformidad severa de miembros inferiores, con estudio renal y bioquímicos normales. Es importante realizar un diagnóstico precoz, tratamiento y seguimiento multidisciplinario para corregir la deformidad con tratamiento quirúrgico.

Background: methaphyseal chondrodysplasia is a type of non-frequent bone dysplasia. It is characterized by short stature, genu varum, small pelvis, progressive kyphoscoliosis, wrist deformities, myopia, short long bones and serious methaphyseal dysplasia with moderate changes in the back and minimal changes in hands and feet. Objective: to present the case of a patient with the diagnosis of bone dysplasia treated by a multidisciplinary medical team for a subsequent surgical correction. Clinical case: a three-year-old female patient with a deformity in the lower limbs that causes short stature by genu varum. There was no information of interest in the family medical history. The medical history of the patient showed a normal prenatal, perinatal and postnatal development until she turned 16 months old and started to walk presenting a slight deformity that increased. Conclusions: Schmid methaphyseal chondrodysplasia is an uncommon hereditary disease with a dominant autosomal heredity pattern. Since no other member in the family was affected, there was a De novo mutation in this case. It is necessary to search for its presence in a patient with a serious deformity in the lower limbs with normal biochemical and renal studies. It is important to make an early diagnosis as well as to carry out a treatment and a multidisciplinary follow-up to correct the deformity by means of surgical treatment.

Condrodisplasia metafisaria tipo Schmid: un caso de presentación familiar / Schmid type metaphyseal chondrodysplasia: a case of familial presentation

Resumen: dentro de las displasias óseas hay cuadros clínicos que hacen parte de las denominadas condrodisplasias metafisarias, conocidas también como disostosis metafisarias, las cuales presentan mínimas diferencias entre sí, lo que las hace susceptibles de ser confundidas con otros cuadros clínicos como la acondroplasia y el raquitismo. En este artículo se presenta un caso clínico de condrodisplasiametafisaria tipo Schmid de un paciente de Popayán, Colombia, al igual que algunas consideracionessobre las principales características clínicas, radiológicas, de diagnóstico y tipo de herencia de esta enfermedad. El caso clínico corresponde a un paciente de género masculino de 23 meses de edad, en quien se inician estudios por la presencia de talla baja desproporcionada. Los resultados mostraron coxa vara, genu varo y extremidades cortas, con un fenotipo similar en la madre y el abuelo materno. Las radiografías evidencian la presencia de irregularidad con “deshilachamiento” de las metáfisis de huesos largos; además, ensanchamiento y esclerosis en las metáfisis proximales de ambos fémur. La meta final es ser confirmado por medio de pruebas genéticas. En conclusión, las condrodisplasias metafisarias, especialmente la tipo Schmid, son enfermedades caracterizadas por talla baja y hallazgos radiológicos especiales, dados principalmente por el compromiso metafisario a nivel de los huesos largos, que en conjunto con las características fenotípicas pueden conducir a la sospecha e identificación de este tipo de patología.

Abstract: between the dysplastic bone pathologies there are some medical conditions that belong to so-called metaphyseal chondrodysplasias, also known as metaphyseal dysostosis. These differ slightly from each other, making them capable of being confused with other medical conditions such as achondroplasia and rickets. This article presents a case of Schmid type metaphyseal chondrodysplasiafrom Popayan, Colombia, as well as some considerations about the main clinical characteristics, radiological, diagnosis, and type of inheritance of this disease. The clinical case corresponds to a male patient, 23 months old, who was studied by the presence of disproportionate short stature. Findings showed coxa vara, genu varus, and short limbs, with similar phenotype to the mother and maternal grandfather. The radiological images showed the presence of irregularity with ®fraying¼ of the metaphysis of long bones, in addition to widening and sclerosis in the proximal metaphysis of both femurs. The ultimate goal is to be confirmed by genetic testing. In conclusion, the metaphyseal chondrodysplasias, especially Schmid type, are diseases characterized by short stature and by special radiological findings, mainly given by the metaphyseal affectation of long bones, which together with the phenotypic characteristics may lead to the suspicion and identification of this disease.Keywords: Schmid type metaphyseal chondrodysplasia, osteochondrodysplasias, collagen type.

Síndrome hipoplasia cartílago-cabello: reporte de caso / Cartilage-hair hypoplasia syndrome: a case report

El síndrome hipoplasia cartílago cabello también conocido como condrodisplasia Metafisiaria tipo Mc Kusickes una enfermedad autosómica recesiva que presenta múltiples manifestaciones fenotípicas, tales como talla baja con miembros cortos, alteraciones osteocondrales, extremidades cortas, vello corporal y cabello fino y escaso, piernas relativamente cortas con arqueamiento de los fémures, manos cortas y uñas pequeñas, defectos variables en la inmunidad celular y predisposición a una variedad de neoplasias. El manejo médico de estos pacientes requiere un enfoque multidisciplinario con especialistas en hematología, genética, nutrición y estomatología pediátrica. Se reporta el caso de un paciente con este síndrome al cual fue rehabilitado en el servicio de Odontopediatría del Departamento de Estomatología del Hospital Infantil de México Federico Gómez.

Kusick type is an autosomal recessive disease, has multiple phenotypic manifestations such as hypoplastic hair, short stature, osteochondral abnormalities, short limbs, fine and sparse hair, thin body hair scares relatively short legs with bow femurs, short hands and nails small defects in cellular immunity variables and predisposition to a variety of neoplasm. Management of these patients requires a multidisciplinary approach with specialists in hematology, genetics nutrition and pediatric dentistry. This case report describes phonotypical manifestations of patient with this syndrome who received dental treatment in the Pediatric Dentistry Service at Hospital Infantile de Mexico Federico Gómez .

Condrodisplasia em bovinos no Sul do Rio Grande do Sul / Chondrodysplasia in cattle in Southern Brazil

Descrevem-se 14 casos de condrodisplasia em bovinos. Os dados epidemiológicos e clínicos foram obtidos de protocolos de necropsia e o estudo histológico das lesões foi realizado em fragmentos de ossos longos e ossos da base do crânio dos 14 casos estudados. Onze casos eram de condrodisplasia tipo Telemark e três, tipo bulldog (Dexter). Treze dos 14 bovinos afetados eram da raça Jersey e um era da raça Shorthorn. Concluiu-se que o gene transmissor das condrodisplasias encontra-se presente na população Jersey da região e medidas, como utilização de reprodutores de outras regiões e/ou com teste de progênie ou identificação de genes indesejáveis por meio de técnicas moleculares, devem contribuir para diminuir a ocorrência destes casos na população Jersey da região.

Fourteen cases of chondrodysplasia in cattle are described. Epidemiological and clinical data were obtained from filed necropsy protocols. A histological study of the lesions was performed on long and skull base bones. Eleven cases of chondrodysplasia Telemark type and three Bulldog (Dexter) type were observed. Thirteen out of 14 cases occurred in Jersey cattle and one in Shorthorn. It was concluded that the gene carrier of chondrodysplasia is present in the Jersey population of the region, and breeding measures such as the use of bulls from other regions and/or progeny testing or identification of undesirable genes using molecular techniques should help reduce the occurrence of these cases in the Jersey population of the region.

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld / Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome

El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis.

A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported.

A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.

Diagnóstico prenatal del Síndrome Ellis van Creveld: reporte de caso y revisión de la literatura / Prenatal diagnosis of Ellis-van Creveld syndrome: case report and literature review

Introducción: el síndrome de Ellis van Creveld (EVC) es una entidad rara que se caracteriza por extremidades cortas, polidactilia y defectos cardíacos, que puede ser detectada prenatalmente por medio de ultrasonido. Se analiza un caso con el objetivo de discutir sus características, los posibles diagnósticos diferenciales y el pronóstico. Materiales y métodos: este artículo presenta un caso de diagnóstico prenatal de EVC por medio de ultrasonido, que se confirmó luego del nacimiento. Se realizó una búsqueda bibliográfica en la base de datos Medline vía PubMed en donde se encontraron 579 artículos, de los cuales se revisaron 15 debido a su pertinencia y actualidad. Conclusiones: el síndrome EVC es una condición susceptible de diagnóstico prenatal. Se debe sospechar en caso de mesomelia, polidactilia y defectos cardíacos. El pronóstico depende principalmente del tipo de malformación cardíaca.

Introduction: Ellis van Creveld (EVC) syndrome is a rare genetic disorder which is characterized by a person having short limbs, polydactylia and heart defects; it can be detected prenatally by ultrasound. A case is presented here so that its characteristics, possible differential diagnoses and prognosis can be discussed. Materials and methods: this article presents a case of prenatal diagnosis of EVC by ultrasound which was confirmed shortly after birth. A bibliographic search was made of the Medline via PubMed database; 15 of the 579 articles which were found were reviewed due to their pertinence and topicality. Conclusions: EVC syndrome is a condition which is susceptible to prenatal diagnosis. It should be suspected in cases of mesomelia, polydactyly and cardiac defects. Prognosis mainly depends on the type of cardiac malformation.

Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations.

Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.

Condrodisplasia Rizomélica Punctata: Reporte de 2 casos

La condrodisplasia rizomélica punctata es una enfermedad peroxisomal que se transmite de manera autosómica recesiva, donde se ve afectada la actividad bioquímica de este organillo por defectos en la síntesis y actividad de enzimas que participan en una gran variedad de vías metabólicas, éstas incluyen; La beta oxidación ácidos grasos, síntesis de ácidos biliares y los compuestos isoprenoides. Describimos las manifestaciones clínicas, estudios complementarios y la evolución de dos hermanos atendidos, los cuales presentaban antecedentes y hallazgos en común con este infrecuente padecimiento. De los dos casos, uno fue del sexo femenino y el otro del sexo masculino, el primero falleció por falla respiratoria y el segundo se le realizan los estudios complementarios para el diagnóstico. Desde el punto de vista genético hay consanguinidad del cuarto grado en esta descendencia ya que la pareja son primos y esto aumenta el riesgo de que aparezcan enfermedades hereditarias del tipo autosómico recesivo.

The rhizomelic chondrodysplasia punctata is a peroxisomal disease that is transmitted in an autosomal recessive, where it affected the biochemical activity of this organelle by defects in the synthesis and activity of enzymes involved in a variety of metabolic pathways including the beta oxidation of some fatty acids, bile acid synthesis and isoprenoid compounds. This article describes the clinical manifestations, complementary studies and evolution of 2 brothers served in the Hospital José Domingo de Obaldía in 2009, which had a history and findings in common with this rare condition. Of the 2 cases, one was female and one male, the first died of a respiratory problem and the second study was performed to verify the diagnosis. From the genetic point of view there is a 4th degree consanguinity in the offspring as the pair are cousins and this increases the risk of emerging diseases of autosomal recessive hereditary.

Binder Syndrome Infant Born from Mother with Cholelithiasis / 대한소아내분비학회지

Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. It is associated with vitamin K deficiency during pregnancy. We describe here a baby with Binder syndrome who was born from mother with cholelithiasis during pregnancy.

A Case of X-linked Dominant Chondrodysplasia Punctata / 대한피부과학회지

X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.

A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings / 소아과

Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies showed punctate calcification and stippling on femurs, lumbar vertebral bodies and vertebral coronal cleft. According to his family history, his brother, who had the same characteristic face and punctate calcification at the neonatal period, died at the age of six months due to respiratory failure. The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of age. We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria.

A Case of Chondrodysplasia Punctata / 대한산부인과학회잡지

Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.

Schmid Type of Metaphyseal Chondrodysplasia: 17 years Follow-up Case / 대한정형외과학회잡지

Metaphyseal chondrodysplasia (MCD) is a relatively rare hereditary disease of the skeletal system, in which disproportionate dwarfism sparing the trunk is noted. Among the four subtypes of MCD, the Schmid type is relatively common and shows minimal clinical abnormalities. We report a boy, diagnosed to have MCD, Schmid type, and who was followed-up for 17 years until skeletal maturity, during this period he underwent proximal femoral valgus osteotomies as well as tibial deformity correction with lengthening and femoral lengthening procedures.