Phocomelia

Known as: Phocomelia of unspecified limb 
A congenital malformation in which the upper portion of a limb is either shortened or absent.
National Institutes of Health

Papers overview

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Review
2012
Review
2012
Methotrexate and aminopterin are folic acid antagonists that inhibit dihydrofolate reductase, resulting in a block in the… (More)
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2009
2009
Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper… (More)
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2006
2006
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation… (More)
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Highly Cited
2006
Highly Cited
2006
Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM… (More)
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2003
2003
We studied 24 patients with 44 phocomelic upper limbs. Only 11 limbs could be grouped in the classification system of Frantz and… (More)
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Highly Cited
1994
Highly Cited
1994
BACKGROUND The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently… (More)
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1990
1990
We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post… (More)
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1990
1990
Two daughters of non consanguineous normal parents had phocomelia of both lower extremities with 4 toed feet. The older sister… (More)
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1983
1983
This paper describes an electric cart designed for an 11-month-old child born with multiple limb deficiencies. The device was… (More)
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1971
1971
The occurrence of a new mutation affecting cartilage and bone in mice is reported. The gene is lethal, shows autosomal recessive… (More)
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