Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea

No abstract available.

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: 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.

Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization

Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe a der(X)t(X;Y)(p22.31;q11.22) translocation, detected by conventional cytogenetic analysis, in a male fetus at a gestational age of 16 weeks. Chromosomal analysis of parental blood confirmed that this chromosomal aberration had been maternally inherited. Array comparative genomic hybridization (CGH) analysis of fetal blood further indicated a nullisomy of Xp22.31-pter and a breakpoint between the STS and KAL1 genes. The STS, NLGN4, ARSE, CSF2RA, and SHOX genes are present in the region that was deleted, and are known to be related to conditions such as X-linked ichthyosis, chondrodysplasia punctata, mental retardation, and facial dysmorphism in humans. Prenatal ultrasonographic findings and autopsy results were consistent with Xp22.31-pter deletion phenotypes. Genetic counseling was provided for the mother. The observations from this case study indicate that advanced molecular techniques can provide a more precise prenatal diagnosis of chromosomal anomalies than conventional cytogenetics can.

Condrodisplasia punctata: reporte de un caso y revisión de la literatura / Chondrodysplasia punctata: case report and literature review

Mediante la denominación de condrodisplasia punctata (CDP) se describe a un grupo heterogéneo de displasias esqueléticas infrecuentes caracterizadas por calcificaciones puntiformes del cartílago. Éstas se localizan en las epífisis y en las vértebras desde la infancia e incluso durante el período prenatal, y desaparecen a medida que transcurre la niñez. Esta enfermedad se caracteriza por su heterogeneidad genética, esto es la posibilidad de generar una serie de fenotipos similares que pueden estar determinados por genotipos diferentes. Se reporta un caso de condrodisplasia punctata rizomélica diagnosticado a las 32 semanas de edad gestacional. Se discuten los hallazgos ultrasonográficos así como la forma de presentación de otras variedades de condrodisplasia punctata.

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 warfarin embryopathy / 대한주산의학회잡지

Warfarin is an oral anticoagulant which is known to cross the placenta causing birth defects, known as warfarin embryopathy; fetal effects of early gestational exposure to warfarin is known to cause marked nasal hypoplasia, rhizomelia, and stippled epiphyses. The period of greatest sensitivity is 6 to 9 weeks of gestational age. Clinical studies have suggested that discontinuing warfarin before 6 weeks of gestational age could avoid the teratogenic effect. We experienced a women who had been taking warfarin for 15 years because of SLE (Systemic Lupus Erythematosus) and CRF (Chronic renal failure), who was found to be pregnant at 9 weeks of gestation. She discontinued warfarin and started heparin treatment, however the ultrasound examination showed shortened long bone, scalp edema, and cardiac anomaly (Ventricular septal defect), and termination of pregnancy was performed at 17 weeks of gestation. We report a case of warfarin embryopathy resulting from warfarin exposure until 9 weeks of gestation with a brief review of literature.

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.

Inmunodeficiencia primaria combinada asociada con síndrome de Conradi-Hunermann-Happle / Primary combined immunodeficiency associated with Conradi-Hunermann-Happle's syndrome

Se presenta el caso de una niña de 3 años de edad, de la raza blanca, con antecedentes de infecciones recurrentes y severas desde los 3 meses de edad originadas por virus, bacterias, hongos, protozoos y helmintos. Estas infecciones presentaron localización múltiple, con pobre respuesta a los tratamientos habituales y aparición de complicaciones, acompañadas de manifestaciones alérgicas. El estudio inmunológico reveló una marcada disminución del número de células T CD3+ (22 por ciento), fundamentalmente a expensas de la subpoblación T CD4+ (10 por ciento), con una ligera disminución de la subpoblación linfocitaria T CD8+ (13 por ciento). Se observaron concentraciones disminuidas de las inmunoglobulinas IgM (0,10g/L) e IgG (2g/L) y niveles normales de IgA. No se encontraron deficiencias en las células fagocíticas ni en el sistema de complemento. El diagnóstico de esta inmunodeficiencia primaria combinada se encuentra asociada con el síndrome de Conradi-Hunermann-Happle o condroplasia punctata. En el tratamiento se administraron varios ciclos de gammaglobulina intramuscular y de factor de transferencia (Hebertrans) con una evidente mejoría clínica. Estos resultados demuestran la naturaleza heterogénea de aparición y expresión de las inmunodeficiencias primarias

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.

Condrodisplasia puntiforme forma rizomélica - relato de caso / Rhizomelic chondrodysplasia punctata - case report

Objetivo: descrever um caso de condrodisplasia puntiformeforma rizomélica e apresentar uma breve revisão da literatura. Descrição: os autores descrevem o caso de uma criança de 52 dias de vida que apresentava os principais aspectos da síndrome: micromelia rizomélica, fácies característica, dificuldade de sucção e medidas antropométricas inferiores aos índices esperados para aidade. Radiografias do esqueleto revelaram encurtamento umeral e femoral bilateral e calcificações puntiformes nas articulações dos ombros, quadris e joelhos. O paciente apresentava também malformação cardíaca, manifestação menos comum da síndrome. Comentários: a forma rizomélica da condrodisplasia puntiforme é rara, com 72 casos publicados até 1995. O prognóstico é reservado, com óbito geralmente no primeiro ano de vida. O caso apresentado foi diagnosticado com base em critérios clínicos e radiológicos, pela impossibilidade de pesquisa dos marcadores bioquímicos peculiares

Reporte de un caso de condrodisplasia punctata variedad rizomélica / Report of a case of chondrodysplasia punctata variety rhizomelic

Se presenta un caso clínico de condrodisplasia punctata, variedad rizomélica en un niño de 6 meses, cuyos padres son consanguíneos en primer grado. Se reportan las alteraciones cutáneas distribuidas a nivel de flexuras y zonas acrales no antes descritas en la literatura; asímismo, acortamiento de miembros (rizomelia) y calcificaciones en zonas epifisiales.

Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

A Case of X;Y Translocation with Complex Minor Anomalies and Mental Retardation: 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat / 대한임상병리학회지

A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH analysis showed 46,Y,der(X)t(X;Y)(p22.3;q11.2), and the same chromosomal pattern was found in the mother, who showed no phenotypic anomalies or mental retardation. According to previously reported X-Y translocation cases, the Xp22.3 was the most common breakpoint and many X-linked diseases, which are regulated by the genes located in Xp22.3, were expressed in a variable pattern, such as chondrodysplasia punctata, X-linked ichthyosis, mental retardation, Kallmann syndrome as the sole anomaly or a complex pattern. This boy did not show the typical anomalies that correspond to the above diseases. However, regular follow up and addi-tional studies with adequate counseling will be necessary due to the possibility of delayed ccurence of other typical symptoms and problems such as infertility as he grows up.

A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia / 대한이비인후과학회지

Chondrodysplasia punctata is a rare congenital disease. It is classified into four main types according to the clinical features and heredity: autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, X-linked dominant type and X-linked recessive type. Among the four, rhizomelic chondrodysplasia punctata (RCDP) is the most lethal form of the disease, and most patients die in the neonatal period. Diagnosis of the RCDP relies on its characteristic features and radiological finding. The characteristic features are craniofacial dysmorphism (flat face, flat nasal bridge, anteverted nostril, telecanthus), cataracts, rhizomelic limb shortening, ichthyosis, and mental retardation. Radiologic findings include rhizomelic symmetrical shortening of upper or lower extremity, coronal cleft of vertebral body, metaphysical spraying and stippled calcification. This case shows typical abnormality in the face and extremity and also radiologic abnormality, uniquely combined with unilateral choanal atresia.

Alteraçöes de pele na terceira idade / Skin disorders in the elderly

O processo de envelhecimento, diferentemente de outras doenças, afeta todos os indivíduos e, por ser um processo contínuo, apresenta um aspecto grande e variável de manifestaçöes. Rugas e flacidez da pele estäo entre os sinais mais comuns do envelhecimento, mas muitas características podem ser vistas na pele e também correlacionadas às alteraçöes histológicas que ocorrem com esse processo. As alteraçöes mais comuns da pele do idoso säo discutidas aqui, bem como seu tratamento, de uma maneira muito simples e rápida.(au)

Chondrodysplasia Punctata(Rhizomelic Type) Associated with Pneumothorax

Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form. A male patient with this condition was born at 39 weeks gestation, the pregnancy being complicated by polyhydroamnios, breech presentation, and anomalies of congenital limbs. At delivery, there was no activity and no initial crying. Physical examination revealed a flat nose, a short neck, scaled ichthyolytic skin, and bilaterally symmetrical shortening of the upper and lower extremities. Choromosomal analysis revealed a 46, XY karyotype. Radiologic examination disclosed stippling of the cartilage on the epiphyseal regions of the long bones, paravertebral regions, carpal bones and tarsal bones. In additions, a chest x-ray showed right pneumothorax. Chest and endotracheal tubes were inserted. However, the patient died due to respiratory failure at 19 days of life. We report a case of rhizomelic type of chondrodysplasia punctata assocoated with pneumothorax with a brief review of the related literatures.