Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association

Abstract

CONTEXT: 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. CASE REPORT: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. RESUMOCONTEXTO: A associação entre dimelia fibular e polidactilia em espelho do pé é considerada uma anormalidade de membro inferior bastante rara. Por outro lado, VACTERL é um acrônimo para uma associação não aleatória de anomalias congênitas cuja etiologia ainda é pouco compreendida. RELATO DO CASO:A paciente era uma menina branca de sete meses de idade, cuja mãe utilizou misoprostol no segundo mês de gravidez para indução de aborto. Na avaliação clínica, ela era pequena para a idade e apresentava hipotonia, narinas antevertidas, filtro longo e boca em carpa. A mão esquerda apresentava um defeito de redução com ausência das extremidades do segundo, terceiro e quinto dedos e camptodactilia do quarto. O membro inferior ipsilateral apresentava um importante encurtamento, especialmente rizomélico. O pé possuía uma configuração em espelho com sete dedos e nenhum hálux identificável. A pelve era hipoplásica. Atresia de esôfago com fístula traqueoesofágica e imperfuração anal foram detectadas durante o período neonatal. O ultrassom abdominal identificou agenesia do rim direito e duplicidade pielocalicial à esquerda. A avaliação radiográfica mostrou, no lado esquerdo, hipoplasia do osso ilíaco e do fêmur, ausência da tíbia com duplicação da fíbula, e presença de sete metatarsos e dedos, sem um hálux identificável, no pé. A ecocardiografia identificou um defeito do septo atrial. Acreditamos, com base na lit...

A Seven Toes Foot: Case Series as an Isolated Dysplasia With Variety of Appearance

“…Remarkably, none of our patients had alterations of internal viscera. Foot polydactyly has been described in association with vertebral anomalies, as observed in one of the patients [ 10 , 11 ].…”

Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use

“…Attempted abortion with misoprostol has been found to be associated with congenital musculoskeletal anomalies, including Mobius syndrome, transverse terminal limb defects, lower limb contractures, and equinovarus deformity of the feet (Pastuszak et al, 1998;Orioli and Castilla, 2000). A case of tibial agenesis, fibular dimelia, and mirror polydactyly of the foot has also been reported (Bernardi et al, 2010). Finally, shortening of the proximal long bones has been observed with the combined use of methotrexate/ misoprostol during early pregnancy (Goffman et al, 2006).…”

The use of misoprostol in the termination of pregnancy: a review of studies carried

“…Regarding the teratogenicity of misoprostol, two investigations evidenced the possible association of its use to eight cases of congenital malformation 23,24 23 discusses the disruptive vascular effect caused by misoprostol, which may lead to foetal malformations related to craniofacial structures and in body members. The spectrum of malformations of the report suggests an association with teratogenicity in the period of foetal organogenesis.…”