Chondrodysplasia punctata—23 cases of a mild and relatively common variety

Sheffield, Leslie J.; Danks, David M.; Mayne, Valerie; Hutchinson, Lucille A.

doi:10.1016/s0022-3476(76)80596-3

Cited by 116 publications

(46 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Patients with mild phenotypes of CDPX1 were first reported by Sheffield et al 6) . The clinical characteristics of CDPX1 are short stature, brachytelephalangy, dysmorphic face, nasomaxillary hypoplasia, ichthyosis, cervical myelopathy, and hearing loss.…”

Section: Discussionmentioning

confidence: 99%

“…Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory compromise, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability. Stippled epiphyses on X-ray are the most important radiological feature of CPDX1 6,7) . In approximately 25% of patients with features of CDPX1, karyotype analysis identified gene rearrangements (such as deletions, insertions, or splicing) of the short arm of the X chromosome (Xp) that includes the ARSE gene, and 60% to 75% of patients with clinical features of CDPX1 were diagnosed by identifying mutations in the ARSE gene through sequencing analysis 8) .…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

et al. 2016

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Sheffield et al [1976] concluded that BS should be classified as a mild form of chondrodysplasia punctata (CDP, OMIM: 118650), assuming that punctate epiphyses disappear with age. Other authors [Horswell et al, 1987;Levaillant et al, 2009;Chummun et al, 2012] also argued whether BS and CDP can be clearly differentiated from each other.…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

Hadzsiev

Dávid

Szabó

et al. 2014

Cytogenet Genome Res

View full text Add to dashboard Cite

The patient reported here displayed most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal malformation with unknown etiology. She was sent for genetic evaluation at the age of 10 years because of facial dysmorphism and borderline intellectual disability. Cytogenetic analyses showed a de novo supernumerary small ring chromosome with a pericentromeric region of chromosome 5 in all lymphocytes. Array painting revealed that the marker contains a 20,950-kb genomic region comprising cytogenetic band 5p14.1q11.1. Additionally, 7 reports have been published in the literature with partial trisomy of chromosome 5 overlapping with our case. These 8 cases were analyzed for phenotype/genotype correlation which suggested that the maxillonasal anomalies of Binder phenotype and trisomy of the pericentromeric region of chromosome 5 may be in causal relationship. Future functional annotation studies of genes localized in this genomic region should take this into consideration. To the best of our knowledge, this is the first report on a patient with association of a chromosome abnormality and clinical characteristics of Binder phenotype.

show abstract

“…Frontal bossing and flattened nasal bridge are characteristic of achondroplasia, the most common skeletal dysplasia. 23 Cleft palate and micrognathia are commonly found in the types II and XI collagen abnormalities, and severe abnormally flattened midface with a turned up nose is frequently found in the chondrodysplasia punctata disorders, as well as others, 24 whereas swollen ear pinnae in the neonatal period are seen in diastrophic dysplasia. 25 Other organ systems, beyond the skeleton, can be involved, although not commonly.…”

Section: Clinical Evaluation and Features In The Chondrodysplasiasmentioning

confidence: 99%

The skeletal dysplasias

Krakow¹,

Rimoin

2010

Genetics in Medicine

207

167

View full text Add to dashboard Cite

Abstract:The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan. Genet Med 2010:12(6):327-341. Generalized disorders of cartilage and bone have been referred to as skeletal dysplasias, whereas those that affect an individual bone or group of bones have been referred to as dysostoses; however, these distinctions are blurring as their basic defects are elucidated. The skeletal dysplasias are associated with abnormalities in the patterning, development, maintenance, and size of the appendicular and axial skeleton and frequently result in disproportionate short stature. Until the early 1960s, most individuals with short stature were considered to have pituitary dwarfism, achondroplasia (short-limb dwarfism), or Morquio disease (short-trunked dwarfism). Presently, there are more than 350 well-characterized skeletal dysplasias that are classified primarily on the basis of clinical, radiographic, and molecular criteria. 1 They result from mutations in various families of genes that encode extracellular matrix proteins, transcription factors, tumor suppressors, signal transducers (ligands, receptors, and channel proteins), enzymes, cellular transporters, chaperones, intracellular binding proteins, RNA processing molecules, cilia and cytoplasmic proteins, and a number of gene products of currently unknown function. The skeletal dysplasiasThe skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. Although each skeletal dysplasia is relatively rare, collectively the birth incidence of these disorders is almost 1/5000. 2 These disorders range in severity from precocious arthropathy in relatively average stature individuals to severe dwarfism with perinatal mortality. These disorders can be associated with a variety of orthopedic, neurologic, auditory, visual, pulmonary, cardiac, renal, and psychological complications. EmbryologyThe human skeleton (from the greek, skeletos, "dried up") is a complex organ consisting of 206 bones (126 appendicular, 74 axial, and 6 ossicles). The musculoskeletal system also includes tendons, ligaments, and muscles, and, in addition to cartilage and bone, is involved in linear growth, mechanical support, movement, a blood cell and mineral reservoir, and protection of vital organs. These tissues and adipocytes all derive from mesenchymal precursor cells.The patterning and architecture of the skeleton during fetal development determine the number, size, and the shape of the future skeletal elem...

show abstract

Chondrodysplasia punctata—23 cases of a mild and relatively common variety

Cited by 116 publications

References 7 publications

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

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

Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype

The skeletal dysplasias

Contact Info

Product

Resources

About