Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association.
BACKGROUND
The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood.


METHODS
The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to induce abortion. On clinical evaluation, she was small for her age and presented hypotonia, anteverted nares, long philtrum and carp-like mouth. Her left hand had a reduction defect, with absence of the extremities of the second, third and fifth fingers and camptodactyly of the fourth finger. The ipsilateral lower limb presented significant shortening, especially rhizomelic shortening. Her left foot had a mirror configuration with seven toes and no identifiable hallux. The pelvis was hypoplastic. Esophageal atresia with tracheoesophageal fistula and imperforate anus were detected during the neonatal period. Abdominal ultrasound identified agenesis of the right kidney and left pyelocaliceal duplication. Radiographic evaluation on the left side showed iliac and femoral hypoplasia, absence of the tibia with a duplicated fibula and seven metatarsals and toes with no identifiable hallux on the foot. Echocardiography demonstrated an atrial septal defect. Based on the literature, we believe that the spectrum of malformations presented by our patient may be related to the vascular disruptive effect of the misoprostol. However, we cannot rule out the possibility that this association might simply be a coincidence.
Bernardi
Pricila
P
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Graziadio
Carla
C
Rosa
Rafael Fabiano Machado
RF
Pfeil
Juliana Nunes
JN
Zen
Paulo Ricardo Gazzola
PR
Paskulin
Giorgio Adriano
GA
D000015:Abnormalities, Multiple / Q000139:chemically induced*; D000020:Abortifacient Agents, Nonsteroidal / Q000009:adverse effects*; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000139:chemically induced*; D006801:Humans; D007223:Infant; D016595:Misoprostol / Q000009:adverse effects*; D017689:Polydactyly / Q000139:chemically induced*
D000020:Abortifacient Agents, Nonsteroidal; D016595:Misoprostol