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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Apr;30(4):322–324. doi: 10.1136/jmg.30.4.322

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

J P Fryns 1, P Moerman 1
PMCID: PMC1016345  PMID: 8487282

Abstract

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

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  1. Sussman M. D., Kelly T., Rosenbaum K. N., Balian G. Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy. J Orthop Res. 1984;2(4):339–345. doi: 10.1002/jor.1100020406. [DOI] [PubMed] [Google Scholar]

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