Heterogeneity of Chondrodysplasia punctata

Spranger, Jürgen W.; Opitz, John M.; Bidder, U.

doi:10.1007/bf00274739

Cited by 190 publications

(104 citation statements)

References 45 publications

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“…According to Spranger et al (1971) two major types can be recognized: the rhizomelic type with an autosomal-recessive mode of inheritance (RCDP) and the Conradi-Hunermann type with autosomal dominant inheritance. The rhizomelic type is clinically characterized by a disproportionally short stature primarily affecting the proximal parts of the extremities, typical facial appearance, congenital contractures, characteristic ocular involvement and severe mental and growth retardation (Spranger et al 1971). Radiologlcal studies reveal shortening, metaphyseal cupping and disturbed ossification of humeri and/or femora, together with epiphyseal and extra-epiphyseal calcifications (Spranger et al 1971).…”

Section: B) Peroxisomal Disorders Characterized By An Impairment In Smentioning

confidence: 99%

“…The rhizomelic type is clinically characterized by a disproportionally short stature primarily affecting the proximal parts of the extremities, typical facial appearance, congenital contractures, characteristic ocular involvement and severe mental and growth retardation (Spranger et al 1971). Radiologlcal studies reveal shortening, metaphyseal cupping and disturbed ossification of humeri and/or femora, together with epiphyseal and extra-epiphyseal calcifications (Spranger et al 1971). Kretzner et ai, (1981) suggested the involvement of a related biochemical defect in RCDP and Zellweger syndrome based upon the striking resemblance in ocular abnormalities.…”

Section: B) Peroxisomal Disorders Characterized By An Impairment In Smentioning

confidence: 99%

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Peroxisomal disorders in neurology

Wanders

Heymans

Schutgens

et al. 1988

Journal of the Neurological Sciences

171

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SUMMARYAlthough peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate.The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about peroxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the application of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders.The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvement in 10 of them. These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal fl-oxidation enzyme protein deficiency); and (3)those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease.

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Section: B) Peroxisomal Disorders Characterized By An Impairment In Smentioning

confidence: 99%

Section: B) Peroxisomal Disorders Characterized By An Impairment In Smentioning

confidence: 99%

Peroxisomal disorders in neurology

Wanders

Heymans

Schutgens

et al. 1988

Journal of the Neurological Sciences

171

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“…Clinically the 3 genetic subtypes are indistinguishable; within each subtype there is a wide variety in severity of the disease [4]. At the severe end of the spectrum, the disease is characterized by a typical facial appearance, congenital cataracts, rhizomelia, transient periarticular calcifications, arthrogenic contractures, somatic growth impairment and near absence of developmental milestones ( Figure 1) [5]. Magnetic Resonance Imaging (MRI) of the brain shows both developmental and regressive abnormalities, including delayed meylination, increased ventricular size and subarachnoidal spaces, supratentorial myelin abnormalities, progressive cerebellar atrophy and cervical stenosis [6].…”

Section: Introductionmentioning

confidence: 99%

The neurology of rhizomelic chondrodysplasia punctata

Bams-Mengerink

Koelman²,

Waterham³

et al. 2013

TIJDSCHR. KINDERGENEESKUNDE

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Background: To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is the main biochemical feature. Methods: Observational study including review of clinical and biochemical abnormalities, genotype, presence of seizures and neurophysiological studies of a cohort of 16 patients with RCDP.

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“…8 To classify the different forms of chondrodysplasia punctata has been difficult. 9 Gene mapping has confirmed the heterogeneity of the various types. Franco and colleagues identified three novel sulfatase genes in the region of Xp22.3.…”

Section: Discussionmentioning

confidence: 92%

Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus.

Jansen

Sarafoglou

Rebarber

et al. 2000

Journal of Ultrasound in Medicine

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We report a case of skeletal dysplasia detected by ultrasonography in a fetus at 16 weeks' gestation. Generalized shortening of the long bones, with bowing of the femora and tibiae, a flat midface, small mouth, and micrognathia, were demonstrated. Radiologic findings of vertebral coronal clefts, shortened tibiae, elongated fibulae, and calcific stippling confirmed the diagnosis of CP-MT. Skeletal dysplasias are a heterogeneous group of bone growth disorders that result in an abnormal shape and size of the skeleton. CP-MT refers to a category of skeletal dysplasias with stippled calcification and abnormalities of vertebrae, long bones, and viscera.This report describes the ultrasonographic, radiographic, and pathologic findings in a fetus aborted during the second trimester of pregnancy because of a skeletal dysplasia. This fetus showed findings of CP-MT as described by Rittler and associates. 1

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Heterogeneity of Chondrodysplasia punctata

Cited by 190 publications

References 45 publications

Peroxisomal disorders in neurology

Peroxisomal disorders in neurology

The neurology of rhizomelic chondrodysplasia punctata

Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus.

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