Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.
We report on 2 unrelated fetuses with a multiple congenital anomaly pattern of severe limb deficiencies, vertebral/rib alterations, and mirror polydactyly similar to that described previously by us [Urioste et al., Hum Genet 97:214-217, 1996]. In addition, the two cases we present here have a more extense alteration of blastogenesis, expanding the phenotype of the cases previously reported. We have suggested [Urioste et al., Hum Genet 97:214-217, 1996] that this condition may be caused by a mutation in a developmental control gene that affects body-plan organization. The minimal estimate of the prevalence of this new entity in our population (the Spanish Collaborative Study of Congenital Malformations, ECEMC) is 3.0/ 1,000,000 live births.
Martínez-Frías
M L
ML
ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Arroyo
I
I
Bermejo
E
E
Espinosa
J
J
García
M J
MJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000000981:diagnostic imaging* / Q000235:genetics; D011159:Population Surveillance; D011859:Radiography; D013030:Spain; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging