Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero‐metacarpal (HM) type: Variation or heterogeneity?

Borochowitz, Zvi

doi:10.1002/ajmg.1320410406

Cited by 15 publications

(4 citation statements)

References 14 publications

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“…We describe a boy with symmetrical upper limb rhizomelic shortness and chondrodysplasia punctata (CDP). Our patient is very similar to that described by Borochowitz [1991] with an apparently new and distinct form of CDP he called chondrodysplasia punctata, humero-metacarpal (CDP-HM) type. We present this case as a second example of the DP-HM type, confirming this as a unique entity.…”

Section: Introductionsupporting

confidence: 86%

Chondrodysplasia punctata, humero-metacarpal type: A second case

Fryburg

Kelly

1996

Am. J. Med. Genet.

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We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short and wide humeri, symmetrical brachymetacarpy, coronal clefts of the veretebrae, and punctate calcifications in the spine, sacrum, shoulder, feet, and trachea. Borochowitz [1991] described a similar patient with an apparently new syndrome of chondrodysplasia punctata (CP), distinct from previously described forms. He suggested the term “chondrodysplasia punctata, humero‐metacarpal (HM)” type. We present our patient as a second case of this form of CP. © 1996 Wiley‐Liss, Inc.

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Section: Introductionsupporting

confidence: 86%

Chondrodysplasia punctata, humero-metacarpal type: A second case

Fryburg

Kelly

1996

Am. J. Med. Genet.

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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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“…5 Borochowitz reported an infant with chondrodysplasia punctata and shortened humeri. 6 The infant's mother had type 1 diabetes mellitus and exposure to varicella during the pregnancy. It is unclear if this infant had a variation of the tibial-metacarpal form of chondrodysplasia punctata or an embryopathy acquired in utero that resembles the tibial-metacarpal form.…”

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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Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero‐metacarpal (HM) type: Variation or heterogeneity?

Cited by 15 publications

References 14 publications

Chondrodysplasia punctata, humero-metacarpal type: A second case

Chondrodysplasia punctata, humero-metacarpal type: A second case

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

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

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