| Omodysplasia: an affected mother and son. | |
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MedLine Citation:
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PMID: 12210345 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism. The mother in this family had been diagnosed previously with Robinow syndrome; subsequently, her diagnosis was reclassified. Her pregnancy was closely monitored antenatally with serial ultrasound examinations. Delayed ossification of the humerus was noted prenatally. Her son had ambiguous genitalia and similar skeletal manifestations as his mother. A comparison to other known and suspected cases of dominant omodysplasia is presented. Our observations confirm the existence of a dominant variant of omodysplasia, document genital hypoplasia as an important feature of this syndrome in males and highlight the need to differentiate this entity from Robinow syndrome. |
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Authors:
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Charles P Venditti; Jennifer Farmer; Karen L Russell; Christopher A Friedrich; Craig Alter; Douglas Canning; Linton Whitaker; Michael T Mennuti; Deborah A Driscoll; Elaine H Zackai |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 111 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Aug |
Date Detail:
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Created Date: 2002-09-04 Completed Date: 2003-01-31 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 169-77 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology,
radiography Adult Dwarfism / genetics, pathology Face / abnormalities Female Femur / abnormalities, radiography Growth Disorders / genetics*, pathology, radiography Hand Deformities, Congenital / genetics, pathology, radiography Humans Humerus / abnormalities, radiography Infant, Newborn Male Mothers Osteochondrodysplasias / genetics*, pathology, radiography Pregnancy Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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