| A distinct skeletal dysplasia in an infant from consanguineous parents. | |
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MedLine Citation:
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PMID: 890089 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An infant with a distinct set of skeletal anomalies was studied. The patient's main phenotypic features were short-limb dwarfism, craniofacial disproportion with prominent forehead, short neck and trunk with pectus carinatum, and platyspondyly, protuberant abdomen, acromesomelic shortness of limbs, bilateral palm simian crease, short feet with brachydactyly of the 2nd toe, and prominent heels. Differential diagnosis suggests that the case described had a previously unrecognized skeletal dysplasia. The fact that the parents were first cousins suggests a genetic, probably autosomal recessive etiology. |
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Authors:
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J M Cantú; C Manzano; P Pagán; D García-Cruz; A Hernández |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Birth defects original article series Volume: 13 ISSN: 0547-6844 ISO Abbreviation: Birth Defects Orig. Artic. Ser. Publication Date: 1977 |
Date Detail:
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Created Date: 1977-10-28 Completed Date: 1977-10-28 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0003403 Medline TA: Birth Defects Orig Artic Ser Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 139-47 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases, Developmental
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diagnosis*,
radiography Child, Preschool Consanguinity* Diagnosis, Differential Dwarfism / congenital Face / abnormalities Humans Infant, Newborn Infant, Newborn, Diseases / diagnosis* Limb Deformities, Congenital Male Skull / abnormalities Spine / abnormalities |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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