Hemimelia fibular: presentación de un caso / Fibular Hemimelia: A Case Report

La hemimelia fibular es la malformación más común de huesos largos, con una incidencia entre 7,4 y 20 casos por cada millón de recién nacidos vivos. Puede ser un hallazgo sindrómico o esporádico y la deficiencia puede ser parcial o completa. Hay diferentes clasificaciones, dependiendo de los hallazgos radiológicos, de las características funcionales y de los segmentos faltantes asociados. La etiología no se entiende completamente y la mayoría de las veces la causa precisa permanece desconocida. En esta presentación de caso, presentamos un niño de 6 meses, sin antecedentes familiares, con aplasia fibular bilateral y ausencia de los metatarsianos y falanges del cuarto y el quinto artejos de las dos extremidades, con desarrollo psicomotor normal y sin otras anomalías asociadas. Se describen los hallazgos radiológicos encontrados en este paciente y se revisa el tema, haciendo énfasis en las clasificaciones más usadas, con el objetivo de estandarizar la terminología que puede ser útil en la práctica radiológica.

Fibular hemimelia is the most frequent long bone malformation, with an frequency ranging between 7,4 and 20 cases per one million newborns. It can be a syndromic or a sporadic finding, and its deficiency can be either total or partial. Different classifications exist depending on radiological findings, functional features, and associated absent segments. Its etiology is not fully understood. In most cases, the exact cause is unknown. In this case report, we present a 6-month old boy without a family history of illness with bilateral fibular aplasia and agenesis in the third and fourth metatarsals and in the phalanges of both limbs. The patient has had a normal psychomotor development and did not suffer from any other anomalies. We will describe the radiological findings of this patient. We will also review the literature, emphasizing the more common classifications in order to standardize the terminology which can be useful in radiological practice.

Ilizarov technique for treatment of congenital brachymetatarsia / 中华创伤骨科杂志

Objective To evaluate the clinical therapeutic effectiveness of Ilizarov technique for the treatment of congenital brachymetatarsia.Methods We retrospectively analyzed the 5 patients who had been treated in our department for congenital brachymetatarsia (12 metatarsal bones in 10 feet) from January 2008 to January 2011.All of them were female,aged from 22 to 26 years (mean,24.2 years).All cases were bilaterally involved.Three of them suffered from bilateral brachymetatarsia of the first metatarsal bone,one from bilateral brachymetatarsia of the fourth metatarsal bone,and the other one from bilateral brachymetatarsia of the first and fourth metatarsal bones.Bone transport was conducted with a monolateral mini-fixator in 3 patients and with a modified semi-ring Ilizarov fixator in the other 2.Dorsal incision was used for all osteotomy before the external fixator was mounted.Bone transport began 7 days after surgery at a rate of 0.3 mm/d and was completed in 3 times.Results The 5 patients were followed up from 12 to 48 months (mean,22.0 months).The metatarsal bones were lengthened by 13.5 mm(12 to 17 mm) on average.The functions of the toe and ankle joint were normal without skin necrosis,vascular or nerve injury,tylosis of the footplate,or walking pain.The lengthened segments were mineralized well,with an average lengthening index of 48 d/cm(45 to 53 d/cm) and average time of external fixation of 64.8 days.At the last follow-up,the average AOFAS score was 92.2 points (90 to 95 points).Conclusions Although the Ilizarov technique necessitates a patient's prolonged fixation with an external fixator in the treatment of congenital brachymetatarsia,it has advantages of simplicity,minimal invasion,and satisfactory correction of brachymetatarsia.Consequently it is a good treatment for this disease.

Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association / Dimelia fibular e polidactilia em espelho do pé em uma menina apresentando achados adicionais de associação VACTERL

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.

CONTEXTO: 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 literatura, que o espectro de anormalidades apresentado por nossa paciente possa estar relacionado com o efeito disruptivo vascular do misoprostol. Entretanto, não podemos excluir a possibilidade de que essa associação possa ter sido simplesmente uma coincidência.