Chondrodysplasia punctata, humero-metacarpal type: A second case

Fryburg, Julie S.; Kelly, Thaddeus E.

doi:10.1002/(sici)1096-8628(19960823)64:3<493::aid-ajmg9>3.0.co;2-q

Cited by 8 publications

(4 citation statements)

References 5 publications

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“…There are various types of chondrodysplasia punctata ; autosomal recessive forms (RCDP types 1, 2 and 3), X-linked dominant form (Conradi-Hünermann-Happle syndrome), an X-linked recessive brachy-telephalangic type and Sheffield type 4 . Several milder forms of CDP, tibia-metacarpal type and humero-metacarpal type, have also been described 5,6 . Within these variations, there are different syndromes characterized by distinct anomalies, severity, modes of transmission and radiological features.…”

Section: Discussionmentioning

confidence: 99%

Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

Raha

Haque

Jahan

et al. 2015

J. Bangladesh Coll. Phys.

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A female newborn baby presented with the features of Rhizomelic chondrodysplasia Punctata (RCDP) characterized by rhizomalic shortening with contracture of lower extremities, ichthyosis, microcephaly, dysmorphic facial features including a depressed nasal bridge, hypoplastic midface, full cheeks & low set ear, breathing difficulties and anthropometric measures below the expected indexes for her age. The patient also presented congenital heart disease, a less common manifestation of the syndrome. Radiological features include epiphyseal stippling & Journal of Bangladesh College of Physicians and Surgeons Vol. 32, No. 3, July 2014 multiple calcification in the epiphyseal cartilage, metaphyseal flaring and clefts in vertebral bodies. It is a rare autosomal recessively inherited skeletal dysplasia. The prognosis is bad and death usually occurs within the first year of age. We report a case of neonatal RCDP which was diagnosed based on the typical clinical and radiological features.J Bangladesh Coll Phys Surg 2014; 32: 174-177

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Section: Discussionmentioning

confidence: 99%

Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

Raha

Haque

Jahan

et al. 2015

J. Bangladesh Coll. Phys.

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“…Fryburg and Kelly described another case of the variable form. 7 Matsui and colleagues diagnosed a newborn infant with CP-MT who was developmentally delayed at 9 months, a feature not previously associated with this disorder. 8 To classify the different forms of chondrodysplasia punctata has been difficult.…”

Section: Discussionmentioning

confidence: 99%

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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“…It has been suggested that a rare ‘Humero‐Metacarpal’ form of CDP may represent a distinct entity [Borochowitz, 1991; Fryburg and Kelly, 1996]. Recently a clinical form similar to rhizomelic CDP but without the biochemical features has been described [Kumada et al, 2001].…”

Section: Discussionmentioning

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, humero-metacarpal type: A second case

Cited by 8 publications

References 5 publications

Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

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

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

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