TY - JOUR
T1 - Ectrodactyly with fibular aplasia: A separate entity?
AU - Menke, Leonie A.
AU - Bijlsma, Emilia K.
AU - van Essen, Anthonie J.
AU - van den Boogaard, Marie-José H.
AU - van Rijn, Rick R.
AU - Cobben, Jan Maarten
PY - 2008
Y1 - 2008
N2 - E/FA is the combination of ectrodactyly (split hand/foot malformation, SHFM) and fibular aplasia. It is a rare disorder considered to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression. In order to determine recurrence risks for the two patients we describe, the literature on inheritance of E/FA was carefully reviewed. In Our opinion, only two of the eight families previously reported as examples of familial E/FA may fit this judgment. Until mutation analysis of all SHFM genes is possible, the question remains whether these familial cases represent autosomal dominant E/FA, or an allelic variant of an SHFM subtype. Many sporadic patients with presumed E/FA may represent the fibular developmental field defect, which is a non-genetic entity with a low recurrence risk. We therefore suggest that the high recurrence risk associated with autosomal dominant inheritance should not be counselled in patients with E/FA unless their family shows the following characteristics: (1) at least one patient shows typical SHFM combined with fibular aplasia, (2) multiple limbs are affected, and (3) multiple family members are affected in at least two generations. (c) 2008 Elsevier Masson SAS. All rights reserved
AB - E/FA is the combination of ectrodactyly (split hand/foot malformation, SHFM) and fibular aplasia. It is a rare disorder considered to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression. In order to determine recurrence risks for the two patients we describe, the literature on inheritance of E/FA was carefully reviewed. In Our opinion, only two of the eight families previously reported as examples of familial E/FA may fit this judgment. Until mutation analysis of all SHFM genes is possible, the question remains whether these familial cases represent autosomal dominant E/FA, or an allelic variant of an SHFM subtype. Many sporadic patients with presumed E/FA may represent the fibular developmental field defect, which is a non-genetic entity with a low recurrence risk. We therefore suggest that the high recurrence risk associated with autosomal dominant inheritance should not be counselled in patients with E/FA unless their family shows the following characteristics: (1) at least one patient shows typical SHFM combined with fibular aplasia, (2) multiple limbs are affected, and (3) multiple family members are affected in at least two generations. (c) 2008 Elsevier Masson SAS. All rights reserved
U2 - https://doi.org/10.1016/j.ejmg.2008.04.001
DO - https://doi.org/10.1016/j.ejmg.2008.04.001
M3 - Article
C2 - 18547886
SN - 1769-7212
VL - 51
SP - 488
EP - 496
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 5
ER -