Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

Author(s):  
M.H. Breuning ◽  
A.P. Oranje ◽  
R.A.Th.M. Langemeijer ◽  
S.E.R. Hovius ◽  
A.F.M. Diepstraten ◽  
...  
1992 ◽  
Vol 128 (8) ◽  
pp. 1108-1111 ◽  
Author(s):  
R. W. Goltz

2020 ◽  
Author(s):  
Hammal Khan ◽  
Sohail Ahmed ◽  
Sadia Nawaz ◽  
Wasim Ahmad ◽  
Muhammad Arshad Rafiq ◽  
...  

Abstract Background GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations in the pleiotropic gene GLI3 may result in different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS is characterized by mild to severe craniofacial and limb malformations. Methods and Results Here, we report clinical and molecular study of 3 families with GCPS originated in different regions of Pakistan. Sanger sequencing revealed two novel variants including a frameshift [c. 3790_3791InsC, p.(Gly1236Argfs*11)] and a missense [c.1692A>G, p.(His536Arg)], and one previously reported variant [c.1965_1966delAT, p.(His627Glufs*48)] located in 2 different domains of the GLI3. Conclusion This study not only expanded spectrum of the mutations in the GLI3 but also highlighted phenotypic variability in the GCPS patients. This will facilitate diagnosis and genetic counseling of families with same and related disorders in the Pakistani population.


1979 ◽  
Vol 4 (4) ◽  
pp. 223-227 ◽  
Author(s):  
D. Knockaert ◽  
J. Dequeker

Development ◽  
1977 ◽  
Vol 41 (1) ◽  
pp. 289-294
Author(s):  
R. R. Schmidt ◽  
K. P. Chepenik ◽  
B. V. Paynton

Pregnant rats were subjected to either a folic-acid-deficient regimen that produces multiple congenital skeletal malformations, or a control folic-acid-supplemented regimen. Fetal limbs were extirpated on days 16 and 18 of gestation, pooled from each litter, homogenized, and aliquots set aside for hydroxyproline, protein and DNA determinations. We found that (1) the amount of protein recovered per treated limb was approximately half that of controls on both days, (2) the amount of protein recovered per treated or controlday-18 limb was twice that of a day-16 limb, (3) treated limbs constituted the same percentage of total body weight as in controls on day 16, but a smaller percentage than in controls on day 18, and (4) the concentration of hydroxyproline (μg/mg protein) was significantly less for treated limbs than for controls on day 18 of gestation. We noted also that: (1) lowest hydroxyproline concentrations were found in limbs from treated fetuses with gross limb malformations, (2) intermediate concentrations were found in limbs of treated fetuses not exhibiting gross limb malformations, and (3) highest concentrations were found in control limbs. We suggest that the treatment resulted in (1) a decreased rate of accumulation of protein in limbs prior to day 16, but not from day 16 to day 18, (2) a decreased rate of accumulation of some non-protein component(s) in treated limbs from day 16 to day 18, and (3) an altered collagen metabolism.


2008 ◽  
Vol 7 (4) ◽  
pp. 325-327 ◽  
Author(s):  
Maria A. Toro-Sola ◽  
Mildred L. Kistenmacher ◽  
Hope H. Punnett ◽  
Angelo M. DiGeorge

2011 ◽  
Vol 27 (3) ◽  
Author(s):  
José Luis Barragán-Ramírez ◽  
José Luis Navarrete-Heredia

On September 9th, 2010, we found an individual of Lithobates neovolcanicus in a pond near to a disturbed pine forest from Mezcala de la Asunción, Poncitlán, Jalisco. The specimen presented two different deformities in its left forelimb and right hindlimb, polymelia and ectromelia, respectively. This is the first record of limb malformations in this endemic Mexican species.


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