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Ectrodactyly and Prenatal Diagnosis [PDF]
The Journal of Obstetrics and Gynecology of India, 2011 Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers.
S B, Nair +3 more
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AMPHIBIAN AND REPTILE COLONIZATION OF RECLAIMED COAL SPOIL GRASSLANDS [PDF]
, 2014 While habitat loss is a major driver of amphibian and reptile declines globally, a subset of post-industrial landscapes, reclaimed and restored, are creating habitat for these animals.
Engbrecht, Nathan J. +6 more
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Split-hand/split-foot malformation (SHFM)
Asian Journal of Medical Sciences, 2014 Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur
Monojit Mondal
doaj +1 more source
Autosomal recessive split-hand/split-foot malformation
Journal of Mahatma Gandhi Institute of Medical Sciences, 2016 Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot.
Monojit Mondal +3 more
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Ectrodactyly-lobster claw deformity.
The Pan African medical journal, 2021 Lobster-claw deformity, also called as ectrodactyly is an uncommon congenital presentation occurring in the hand due to longitudinal failure of development of second, third or fourth ray. It occurs in 1 to 4 newborns in 100,000 live births. It occurs mostly due to consanguineous marriage but can also occur in the non - consanguineous marriage.
Sarath Kumar Udaya Kumar +1 more
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Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population [PDF]
, 2013 Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in ...
Aquino, Sibele Nascimento de +8 more
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The Hay Wells Syndrome-Derived TAp63aQ540L Mutant has Impaired Transcriptional and Cell Growth Regulatory Activity [PDF]
, 2006 p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC ...
CALABRO', VIOLA +8 more
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Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation [PDF]
, 2013 PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand–foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and ...
Pengjun Su +4 more
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Frontiers in Molecular Biosciences, 2023 Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss ...
Anna Sowińska-Seidler +6 more
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Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]
, 2017 Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
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