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

Jansen, Valerie; Sarafoglou, Kyriakie; Rebarber, Andrei; Greco, Alba; Genieser, Nancy B.; Wallerstein, Robert

doi:10.7863/jum.2000.19.10.719

Cited by 8 publications

(4 citation statements)

References 12 publications

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“…Other characteris cs have been described with a variable frequency like ichthyosis, cataracts, restricted joint mobility, sucking and deglu on diffi culty, alopecia, audi ve and visual difi ciencies, seizures, op c nerves hypoplasia, kyphoscoliosis and cle spine 3,4,11,12 .…”

Section: Discussionmentioning

confidence: 99%

Chondrodysplasia Punctata

Narang¹,

Arora²,

Khurana³

et al. 2014

J. Nepal Paedtr. Soc.

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Section: Discussionmentioning

confidence: 99%

Chondrodysplasia Punctata

Narang¹,

Arora²,

Khurana³

et al. 2014

J. Nepal Paedtr. Soc.

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“…3,9 Our patient had the tibia-metacarpal type of CDP (CDP-TM), which presents in patients with shortening and bowing of the tibiae, shortened third and fourth metacarpals, and vertebral anomalies, including coronal clefts and abnormal ossification. [10][11][12] Although it is thought to be autosomal dominant, the precise etiology of CDP-TM is unknown. 10…”

Section: Chondrodysplasia Punctatamentioning

confidence: 99%

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case

Patel,

Youngblood,

LoPresti

et al. 2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Chondrodysplasia punctata (CDP) describes skeletal dysplasia secondary to a variety of genetic underpinnings characterized by cartilaginous stippling from abnormal calcium deposition during endochondral bone formation. Approximately 20%–38% of patients with CDP have cervical spine abnormalities, resulting in stenosis and cord compression. However, approaches to management differ among patients. OBSERVATIONS The authors present an 18-year-old male with a known history of CDP and cervical kyphosis with worsening paresthesias and increased spasticity. Imaging confirmed dysplastic C4 and C5 vertebra with focal kyphosis, bony retropulsion, spinal cord compression, and myelomalacia. To treat the stenosis and deformity, the patient underwent C4 and C5 vertebrectomies with C3 to C6 anterior fusion with resolution of symptoms. LESSONS Despite many CDP patients having cervical deformities with spinal cord compression and associated neurological symptoms, there is a paucity of data on surgical management and outcomes. There are only scattered reports, and most authors recommend initial conservative management because of the high risk of operative morbidity and mortality secondary to comorbidities. When surgery is performed, long-term follow-up is recommended because of the high rates of progression of deformity, requiring subsequent operations. The authors hope that their experience adds to the literature describing the surgical management of cervical deformities in these patients.

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“…The tibia–metacarpal type of chondrodysplasia punctata (CDP‐TM) has now been described in at least 11 children [Haynes and Wangner, 1951; Asanti and Heikel, 1963; Burck, 1982; Rogers, 1989; Rittler et al, 1990; Matsui et al, 1994; Mayden Argo et al, 1996; Jansen et al, 2000]. This form of CDP is characterized by shortening and bowing of the tibiae, shortened metacarpals, shortened ulnae with radial bowing, and vertebral clefts or delayed vertebral ossification.…”

Section: Introductionmentioning

confidence: 99%

Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history

Savarirayan

Boyle

Masel

et al. 2003

American J of Med Genetics Pt A

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We report the longterm clinical and radiological progression in three unrelated patients with the tibia-metacarpal form of chondrodysplasia punctata (CDP-TM). The patients were followed for 37, 25, and 32 years, respectively. At follow-up intellectual function was normal, and physical function was well preserved. There was also marked resolution of several significant early radiographic features. The patients attained adult heights of 152, 138, and 148 cm. Two patients had chronic serous otitis media requiring tympanostomy tubes during childhood. One patient suffered persisting back pain related to spinal stenosis and required lumbar laminectomy at the age of 26 years. One patient had hip dysplasia requiring orthopedic surgical intervention. All patients had recurrent patella dislocation. Sterol and very long chain fatty acid profiles, FISH analysis for SHOX gene deletions, blood lymphocyte karyotype, and phytanic acid levels were normal in those tested, and no mutations in arylsulfatase D and E genes were detected. These data suggest that the longterm clinical and functional prognosis in this condition appears to be better than that expected based on initial clinical and radiological findings.

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

Cited by 8 publications

References 12 publications

Chondrodysplasia Punctata

Chondrodysplasia Punctata

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case

Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history

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