Hemimelia peronea: presentación de un caso / Fibular hemimelia: a case presentation

FUNDAMENTO: la hemimelia peronea es un defecto de los huesos largos que puede ser parcial o total y estar asociada a otras anomalías congénitas de fémur, tibia y pie. OBJETIVO: presentar un caso de hemimelia peronea el cual fue diagnosticado en consulta externa por medio del cuadro clínico y radiografías. CASO CLÍNICO: paciente masculino de 10 años de edad, blanco. Refiere la mamá que el niño nació con un defecto en la pierna y ha llevado tratamiento con calzado ortopédico y al ver que no mejora es traído a consulta externa donde a la exploración física se observó deformidad del tobillo derecho en valgo y claudicación a la marcha. Se indicó radiografía de la pierna anteroposterior y lateral y al observar ausencia de una porción del peroné y deformidad de la articulación del tobillo, se decide ingresar con el diagnóstico de hemimelia del peroné para tratamiento quirúrgico mediante osteotomía interna de la tibia. CONCLUSIONES: la hemimelia del peroné se considera un diagnóstico poco frecuente en nuestro medio, el tratamiento de elección es el quirúrgico para mejorar las manifestaciones clínicas.

BACKGROUND: fibular hemimelia is a defect in the long bones that can be partial or total and can be associated to other congenital anomalies of the femur, tibia and foot. OBJECTIVE: to present a case of fibular hemimelia that was diagnosed in the outpatient clinics based on the clinical manifestations and radiographies. CLINICAL CASE: a ten-year-old, white, male patient. The mother of the patient said that the boy was born with a defect in the leg and had been under treatment with orthopedic footwear but since he did not get better he was taken to the outpatient clinics. During the physical examination, a valgus deformity in the ankle and claudication when walking could be observed. The patient had a lateral and anteroposterior radiography of the leg taken and when the absence of a part of the fibula and a deformity in the ankle articulation were noticed, it was decided to hospitalize the patient with the diagnosis of fibular hemimelia to operate through internal osteotomy of the tibia. CONCLUSIONS: fibular hemimelia is considered an infrequent diagnosis in our area. The most recommended treatment is the surgical in order to improve the clinical manifestations.

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.

Prenatal ultrasound diagnosis and analysis of fetal limb deformities / 重庆医学

Objective To explore the ultrasonographic characteristics and methodology characteristics of fetal limb deformities . Methods A retrospective analysis was made on 6 336 pregnant women accepting systematic prenatal ultrasonography during the period of May 2010 to May 2012 in the General Hospital of Chengdu Military Region .The long bones of the upper and lower limbs were scanned by using the systematic continuous sequence approach (SCSA) and by adding the arc rotaryprocess for observing the hands and feet ,fetal limbs morphology ,structure ,posture and movement ,etc .were dynamically observed .The suspected position or fetal limb deformities were examined with three-dimensional(3D) ultrasonography as the supplementary .The prenatal ultrasound examination results of fetal limb deformities were analyzed .Results Among 6 336 pregnant women ,20 cases of fetal limb deformi-ties were confirmed by induced labor or after birth ,18 cases were diagnosed by the prenatal ultrsound ,including 5 cases of short limbs deformity ,3 cases of fatal dwarf ,1 case of phocomelia ,1 case of double radiuses absence ,1 case of unilateral hand missing ,1 case of double shank absence ,2 cases of polydactyly ,3 cases of foot varus and 1 case of overlapping finger .2 cases of missed diagno-sis were multiple fingers and overlapping finger .Conclusion The abnormality of terminal fingers(toes) number and posture is easy to be missed diagnosis ,which are the difficulty and the key point of examination .

Prenatal diagnosis of sirenomelia with 3D skeletal ultrasound mode imaging, 3D spiral CT and MRI / 中华医学超声杂志（电子版）

ObjectiveTo explore the clinical value of three-dimensional (3D) skeletal ultrasound mode imaging, 3D helical computer tomography (3D-HCT) and MRI in diagnosing lower limb skeletal malformations of fetal sirenomelia.MethodsSeven fetuses were suspected of sirenomelia with routine prenatal ultrasonography examination. Three-dimensional skeletal ultrasound mode imaging and MRI were used to conifrm the diagnosis, and the results were compared to those of pathology, 3D spiral CT or X-ray after termination. Five of them underwent chromosome examination including chorionic villus or umbilical cord biopsy.ResultsSix fetuses were singletons and one fetus was a conjoined twin. Three fetuses were male, while four fetuses were female. All fetuses with sirenomelia showed varying degrees of skeletal abnormalities: 1 case of typeⅢ, 2 cases of typeⅣ, 3 cases of typeⅤ and 1 case of typeⅥ. No foot was detected in one case and only single foot was detected in other 6 cases. In 7 cases, 3D skeletal ultrasound mode imaging could demonstrate all the lower limb skeletal malformations, including abnormal femur and tibioifbula, single foot or no feet. Prenatal MRI could demonstrate abnormal femur in 4 cases, abnormal tibioifbula in 1case, and no foot malformation. The results of 3D spiral CT after termination were consistent with X-ray and pathological examination results.ConclusionsAs a new imaging technology for detecting fetal skeletal malformations, prenatal 3D skeletal ultrasound mode imaging and postnatal 3D spiral CT both can display fetal bone clearly. They both have important clinical value in diagnosing lower limb skeletal malformations.

Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association / Bilateral tibial hemimelia tipo 1 (1a e 1b) com hemivertebras T9 e T10: uma nova associacao

CONTEXT Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (< 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia. .

CONTEXTO Ausência congênita da tíbia é uma anomalia rara, com incidência em 1 por 1.000.000 de nascidos vivos, é principalmente esporádica e pode ser identificada como um distúrbio isolado ou como parte de síndromes de malformações. RELATO DO CASO Criança do sexo masculino, nascida de pais não afetados e não consanguíneos, apresentou-se com encurtamento das pernas e adução de ambos os pés. O exame físico realizado com seis meses de idade mostrou perímetro cefálico 44,5 cm (percentil 75), comprimento de 60 cm (percentil < 3), peso 7.700 g (percentil 50), encurtamento da coxa esquerda e as duas pernas com o pé varo bilateralhavia. Não houve dismorfismos craniofaciais, nem tórax, abdômen, genitais e anomalias das extremidades superiores. O desenvolvimento psicomotor foi normal. Os exames, incluindo ultrassonografia renal e da cabeça, potenciais auditivos evocados de tronco cerebral e exames oftalmológicos e cardiológicos, estavam normais. Raios-X revelou ausência bilateral da tíbia com fíbula intacta, hipoplasia distal do fêmur esquerdo e fêmur direito normal. Além disso, as radiografias de coluna mostraram hemivértebras em T9 e T10. CONCLUSÃO Esta associação nova expande o espectro de hemimelia tibial. Além disso, esta observação destaca a utilidade de tal método diagnóstico barato (raios-X), caracterizando a grande variabilidade clínica e radiológica de hemimelia tibial. .

An experimental research and follow-up study of the management of pelvic obliquity due to leg length inequality / 中华骨科杂志

Objective To study the method of surgical correction for pelvic obliquity secondary to leg length inequality. Methods Pelvic equilibrium operation is designed to correct the fixed pelvic obliquity, equilibrate the two lower limbs by bilateral iliac osteotomies with transfer of a block of iliac bone from the normal ilium into the abnormal ilium of the contralateral side. This procedure also corrects the associated acetabular dysplasia. Results In this series of 32 patients, none was lost to follow-up. Thirty-two patients, 19 males and 13 females, whose ages ranged from 14 to 34 years with a mean of 22 years, underwent surgery; twenty-four cases had fixed pelvic obliquity and acetabular dysplasia secondary to a short limb following anterior poliomyelitis. The deformities in seven cases were due to severe tuberculous infection in childhood which had resulted in a fixed adducted ankylosed hip. The pelvic equilibrium was caused by trauma in one case. During the review, the minimum time from surgery was 2 years and 6 months, and the maximum 13 years and 6 months with a mean of 6 years and 8 months. The results were excellent. Preoperatively, 29 patients walked on crutches, and postoperatively, 25 patients could walk unaided, one with a stick and three on single crutch. In this paper, we also presented the associated experiment research of pelvic equilibrium operation. Conclusion Pelvic equilibrium operation has been proved to be a new effective surgical correction method of pelvic obliquity secondary to leg length inequality.

Ultrasonic diagnosis in fetal congenital absence of the radius / 中华超声影像学杂志

Objective To discuss the feature of the ultrasonic image of the fetal congenital absence of the radius. Methods Five cases with congenital absence of the radius were examined by colour Doppler sonography and compared with normal fetuses. Results There were four characteristics of ultrasonic imaging:①The length of three radius was 0 cm in the six disabled limbs,others were 4 time s shorter than the normal identical pregnant fetuses. ②All the disabled limbs showed that the forearm was short and bent, and the hand was lopsided. ③All the cases were combined with hydramnios. ④Three abnormal fetuses were combined with other deformies.Conclusions Ultrasound is superior to other methods in diagnosing fetus congenital absence of the radius.