Journal article
New mesomelic dysplasia with absent fibulae and triangular tibiae
American journal of medical genetics, Vol.94(1), pp.59-63
09/04/2000
DOI: 10.1002/1096-8628(20000904)94:1<59::AID-AJMG12>3.0.CO;2-2
PMID: 10982484
Abstract
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular‐shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated. Am. J. Med. Genet. 94:59–63, 2000. © 2000 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- New mesomelic dysplasia with absent fibulae and triangular tibiae
- Creators
- Ravi SavarirayanValérie Cormier‐DaireCynthia J CurryMarcus B NashelskyValerie RappaportDavid L RimoinRalph S Lachman
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.94(1), pp.59-63
- DOI
- 10.1002/1096-8628(20000904)94:1<59::AID-AJMG12>3.0.CO;2-2
- PMID
- 10982484
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- John Wiley & Sons, Inc; New York
- Number of pages
- 5
- Grant note
- NIH (HD 22657)
- Language
- English
- Date published
- 09/04/2000
- Academic Unit
- Epidemiology; Pathology
- Record Identifier
- 9984046810102771
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