Reporte de caso de síndrome FATCO: aplasia fibular, campomelia de tibia y oligosindactilia / A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly

El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

Síndrome de Davidenkow: Una neuropatía periférica rara / Davidenkow syndrome. A rare peripheral neuropathy

En 1939 Davidenkow describió un tipo de atrofia diferente y rara con un patrón predominante en distribución escápulo-peroneal. Algunos investigadores caracterizaron el síndrome como una variante de la enfermedad de Charcot-Marie-Tooth; sin embargo, Davidenkow percibió que las manifestaciones clínicas y de laboratorio no corroboraban exactamente esta hipótesis. Describimos el caso de una mujer de 39 años, con cuadro clínico semejante al síndrome descrito por Davidenkow, presentando atrofia escápulo-peroneal. Sus primeros síntomas comenzaron cuando tenía 24 años, inicialmente con debilidad motora proximal en los miembros superiores. No tenía historia familiar de miopatía o neuropatía y se excluyeron otros síndromes que se podrían incluir entre los diagnósticos diferenciales mediante la realización de pruebas de mutación genética, además del examen físico y electromiografía. El amplio espectro de enfermedades neuromusculares a veces dificulta su diagnóstico y debe ser siempre considerado en el diagnóstico diferencial.

A different and rare type of atrophy with a predominant pattern in scapulo-peroneal distribution was described by Davidenkow in 1939. The syndrome was characterized by some researchers as a variant of Charcot-Marie-Tooth disease, however Davidenkow noticed that clinical and laboratorial manifestations did not corroborate exactly with this hypothesis. We describe a case of a female patient, 39 years-old, clinical picture similar to the syndrome described by Davidenkow, presenting scapulo-peroneal atrophy. Her first symptoms had appeared when she was 24, initially with proximal motor weakness in the upper limbs. This patient did not have family history of myopathy or neuropathy. Several tests were performed to exclude other syndromes that could be included in the differential diagnosis, by testing gene mutation, in addition to the physical examination and electromyography. The large spectrum of neuromuscular diseases makes difficult the diagnosis of Davidenkow’s syndrome which always should be considered in the differential diagnosis.

Aqueiropodia: primer reporte de caso en Argentina / Acheiropodia: first case report in Argentina

La aqueiropodia es una enfermedad muy infrecuente, de herencia autosómica recesiva, caracterizada por una anomalía de reducción de miembros. Esta enfermedad ha sido descrita principalmente en Brasil. El objetivo de este trabajo es describir el primer caso reportado en Argentina, en dos hermanos gemelos afectados. Los pacientes fueron comunicados al Registro Nacional de Anomalías Congénitas de Argentina (RENAC). Ambos gemelos presentaron ausencia de manos y huesos del antebrazo, ausencia de pies, piernas acortadas con ausencia de peroné bilateral. Los pacientes descritos en este estudio son el primer reporte del síndrome de aqueiropodia en Argentina. La inmigración proveniente de Brasil posiblemente explique la ocurrencia de esta patología en nuestra población.

Acheiropodia is a very rare disease with autosomal recessive inheritance characterized by limb reduction defects. It has been described mainly in Brazil. The aim of this report is to describe the first reported cases in Argentina in two affected twins. Patients were reported to the National Registry of Congenital Anomalies of Argentina (RENAC). Both twins had limb reduction defect including hands, forearms, feet and fibulae. These patients are the first reported cases of acheiropodia syndrome in Argentina. Immigration from Brazil could explain this case in our population.

Macrodistrofia lipomatosa: reporte de un caso / Macrodystrophia lipomatosa: a case report

Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.

La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.

Our experience with macrodactyly: a rare congenital anomaly

To present our experience with [Macrodactyly] a rare congenital anomaly and its associated anomalies. Macrodactyly is an increase in the size of one or several fingers or toes. The overgrowth is limited to or predominantly affects the digits. It is characterized by an increase in all mesenchymal elements particularly fibro-adipose tissue. It does not appear to be an inherited condition and is thought to be caused by abnormal nerve supply, abnormal blood supply or abnormal humeral mechanisms. Pathologically, they are benign, soft tissue growths. Macrodactyly is commonly an isolated condition but other congenital anomalies are associated with it. It can be static or a progressive disorder. Soft tissue debulking, phalangectomies, ray resection, ostetomies and arthrodesis of interphalangeal joints are different modes of treatment. Descriptive case series. This study was conducted in Plastic Surgery Unit of Hayatabad Medical Complex Peshawar and Orthopaedic unit of Khyber Teaching Hospital, Peshawar from April 2007 to December 2009. A total of 32 patients were registered during the study period. Patients were admitted through out patient department, written informed consent was obtained from all individuals. Detailed history was taken, every patients was assessed clinically and radiologically. All patients were followed for recurrence. 2 patients were lost in follow up and the study was completed on 30 patients. Mean age of the patients was 13.7 years. Out of 30 patients, 19 were male and 11 were female. Hands were involved in 20 patients and feet in 10 patients. There was no bilateral hands or feet involvement. Eighteen patients had progressive and 12 patients have static macrodactyly. Seventeen patients had isolated macrodactyly while in 13 patients macrodactyly was associated with other congenital anomalies most commonly syndactyly. Most commonly involved digit was index finger in hand and big toe in foot. Macrodactyly is a rare congenital anomaly but cosmetic and functional disability of the patient is significant. Although it is mostly isolated but a significant number of cases were associated with other congenital anomalies which necessitate further research in this field

Ectrodactyly/split hand feet malformation.

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

Bilateral fibular hemimelia with recto-vestibular fistula associated with amniotic bands.

Fibular Hemimelia is a rare congenital disorder of deficiency to complete absence of fibula. It has been associated with post axial skeletal anomalies like shortening of femur, absence of lateral rays of foot and syndactyle, polydactyle etc. We report this case because of associated amniotic constriction bands over both the forearm, suggesting amniotic bands may be one of the causal factors of Fibular Hemimelia due to insult to the growing limb bud.

Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso / Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report

Descrição de um caso da síndrome de displasia ectodérmica, ectrodactilia e fissura lábio-palatal (EEC), doença rara com importante acometimento ocular. Paciente de 26 anos, com queixa de dor, fotofobia e baixa acuidade visual no olho esquerdo há três dias, submetida à investigação genética, após exames físico e oftalmológico completos. Foi diagnosticado síndrome EEC e identificadas todas as alterações sistêmicas e oculares. Apresentava uma úlcera paracentral estéril no olho esquerdo, com dificuldades de cicatrização devido às alterações oculares próprias da síndrome (alteração do filme lacrimal, triquíase, ausência de glândulas de Meibomius, entre outras). Foi feita descrição das alterações oculares nessa síndrome rara, para que haja tratamento preventivo e diminuam os riscos de baixa de acuidade visual em pacientes que recebam esse diagnóstico genético.

A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.

Evaluación radiológica del método de Ponseti: Hospital Ortopédico Infantil Caracas Venezuela / Radiological evaluation of the method of Ponseti: Hospital Ortopédico Infantil Caracas Venezuela

Nosotros evaluamos los estudios radiológicos de 121 pacientes (171 pies) con deformidades en equino, varo, aducto y cavo congénito tratados con el método de Ponseti en el Hospital Ortopédico Infantil durante Enero 2002- Diciembre del 2003. Los parámetros radiológicos analizados (La proyección Antero- Posterior y Lateral). En cuanto al género 88 eran masculino y 30 femeninos; con una edad menor de 4 meses al iniciar el tratamiento. Los resultados obtenidos fueron una mejoría de los ángulos astrágalo calcáneo; que en la proyección AP. de un resultado promedio antes de iniciar el método de Ponseti de 13,63º; aumentó en el último control a 32,14º y en proyección lateral de 9,93º antes de iniciar el tratamiento; llegó a 25,45º al final del último control. El índice astrágalo calcáneo; que demuestra el grado de sub luxación de la articulación astrágalo calcáneo escafoidea, también experimentó mejoría; teniendo como valor promedio de 23,56º antes de iniciar el protocolo llegando a alcanzar 57,59º al final del mismo.Por lo que concluimos que con este método de tratamiento no solo podemos obtener una corrección de la deformidad del pie equino varo clínica sino también radiológica.

Metatarso varo en el niño: diagnóstico y tratamiento actual / Metatarsus varu deformity in the child: diagnosis and the current treatment

Se realizó una revisión bibliográfica del metatarso varo por ser una enfermedad extraordinariamente frecuente en nuestro medio, donde profundizamos en las posibles causas. El tratamiento se dividió por etapas, basado especialmente en la edad del paciente. Se describen otras técnicas utilizadas con éxito en nuestro servicio

Pie en serpentina idiopatico / Skewfoot

El pie en serpentina es una deformidad en aducción del antepie que se asocia a valgo del talón. Se describe un caso de esta infrecuente deformidad, y se plantean opciones de tratamiento

Mandibulo-acral dysplasia: Indian patient with severe bony changes.

We report an Indian patient with mandibulo-acral dysplasia. This patient had absence of spinous processes of 4th and 5th cervical vertebrae and very severe bony changes but no loss of teeth.