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1.
JBRA Assist Reprod ; 22(2): 157-159, 2018 Jun 01.
Article in English | MEDLINE | ID: mdl-29638102

ABSTRACT

Hand-food-genital syndrome (HFGS) is a rare genetic condition. This report describes the cases of two patients, aged 33 and 15, presenting related somatic abnormalities. HFGS stems from an autosomal anomaly linked to the HOXA 13 gene. Therapeutic procedures are discussed in order to identify the best treatment approach to the patients, as well as possible conditioning genetic anomalies.


Subject(s)
Abnormalities, Multiple/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Urogenital Abnormalities/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adolescent , Adult , Diagnosis, Differential , Female , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/pathology , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/pathology , Homeodomain Proteins/genetics , Humans , Urogenital Abnormalities/genetics , Urogenital Abnormalities/pathology
2.
Arch. argent. pediatr ; 114(3): e167-e170, jun. 2016. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-838219

ABSTRACT

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.


Subject(s)
Humans , Male , Infant, Newborn , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Syndactyly/diagnosis , Campomelic Dysplasia/diagnosis , Tibia/abnormalities , Toes/abnormalities , Fibula/abnormalities , Fingers/abnormalities
3.
Arch Argent Pediatr ; 114(3): e167-70, 2016 Jun 01.
Article in Spanish | MEDLINE | ID: mdl-27164350

ABSTRACT

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.


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.


Subject(s)
Campomelic Dysplasia/diagnosis , Fibula/abnormalities , Fingers/abnormalities , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Syndactyly/diagnosis , Tibia/abnormalities , Toes/abnormalities , Humans , Infant, Newborn , Male
4.
Medicina (B Aires) ; 76(1): 33-5, 2016.
Article in Spanish | MEDLINE | ID: mdl-26826991

ABSTRACT

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.


Subject(s)
Charcot-Marie-Tooth Disease/diagnosis , Foot Deformities, Congenital/diagnosis , Muscular Atrophy/diagnosis , Peripheral Nervous System Diseases/diagnosis , Scapula/abnormalities , Adult , Diagnosis, Differential , Electromyography , Female , Humans , Neural Conduction , Scapula/innervation , Syndrome
5.
Medicina (B.Aires) ; Medicina (B.Aires);76(1): 33-35, feb. 2016. ilus
Article in Spanish | LILACS | ID: biblio-841536

ABSTRACT

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.


Subject(s)
Humans , Female , Adult , Scapula/abnormalities , Foot Deformities, Congenital/diagnosis , Muscular Atrophy/diagnosis , Charcot-Marie-Tooth Disease/diagnosis , Peripheral Nervous System Diseases/diagnosis , Scapula/innervation , Syndrome , Diagnosis, Differential , Electromyography , Neural Conduction
6.
Arch. argent. pediatr ; 113(5): e299-e303, oct. 2015. ilus
Article in Spanish | LILACS, BINACIS | ID: lil-757076

ABSTRACT

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.


Subject(s)
Humans , Male , Infant, Newborn , Phenotype , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Diseases in Twins
7.
Arch Argent Pediatr ; 113(5): e299-303, 2015 Oct.
Article in Spanish | MEDLINE | ID: mdl-26294167

ABSTRACT

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.


Subject(s)
Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Argentina , Diseases in Twins , Humans , Infant, Newborn , Male , Phenotype
8.
An Pediatr (Barc) ; 76(6): 355-9, 2012 Jun.
Article in Spanish | MEDLINE | ID: mdl-22326510

ABSTRACT

Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NOG gene have been reported in many families. We describe a family with carpal tarsal fusion seen at a Skeletal Dysplasia Clinic and look at the differential diagnoses.


Subject(s)
Synostosis/diagnosis , Adult , Carpal Bones/abnormalities , Child , Female , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/genetics , Humans , Pedigree , Phenotype , Stapes/abnormalities , Synostosis/genetics , Tarsal Bones/abnormalities
9.
J Pediatr Surg ; 46(3): e11-2, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21376179

ABSTRACT

Precalcaneal congenital fibrolipomatous hamartoma is a benign condition of infancy that is possibly underdiagnosed because of the lack of reports in the literature. Lesions become evident after the first months of life and may be troublesome to parents and physicians. Patients are frequently referred to the pediatric surgeon for evaluation. We report and discuss 2 typical cases.


Subject(s)
Foot Deformities, Congenital/diagnosis , Hamartoma/congenital , Adipocytes/pathology , Biopsy , Female , Foot Deformities, Congenital/pathology , Hamartoma/diagnosis , Hamartoma/pathology , Humans , Infant
10.
Rev. chil. pediatr ; 81(6): 531-535, dic. 2010. ilus
Article in Spanish | LILACS | ID: lil-583039

ABSTRACT

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.


Subject(s)
Humans , Female , Child , Toes/abnormalities , Foot Deformities, Congenital/diagnosis , Gigantism/diagnosis , Lipomatosis/diagnosis , Foot Deformities, Congenital/etiology , Gigantism/etiology , Lipomatosis/etiology
13.
Arq Bras Oftalmol ; 70(1): 125-8, 2007.
Article in Portuguese | MEDLINE | ID: mdl-17505732

ABSTRACT

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.


Subject(s)
Cleft Lip/diagnosis , Ectodermal Dysplasia/diagnosis , Eye Diseases, Hereditary/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Adult , Cleft Lip/genetics , Ectodermal Dysplasia/genetics , Eye Diseases, Hereditary/genetics , Female , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Humans , Syndrome
14.
Arq. bras. oftalmol ; Arq. bras. oftalmol;70(1): 125-128, jan.-fev. 2007. ilus
Article in Portuguese | LILACS | ID: lil-453141

ABSTRACT

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.


Subject(s)
Humans , Female , Adult , Cleft Lip/diagnosis , Ectodermal Dysplasia/diagnosis , Eye Diseases, Hereditary/diagnosis , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Cleft Lip/genetics , Ectodermal Dysplasia/genetics , Eye Diseases, Hereditary/genetics , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Syndrome
15.
Rev. venez. cir. ortop. traumatol ; 38(2): 67-73, 2006. ilus, graf
Article in Spanish | LILACS | ID: lil-513382

ABSTRACT

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.


Subject(s)
Humans , Male , Infant, Newborn , Infant , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/therapy , Equinus Deformity/diagnosis , Equinus Deformity , Equinus Deformity/therapy , Achilles Tendon/injuries , Radiography/methods , Rupture , Traumatology
16.
Arch. méd. Camaguey ; 8(2)mar.-abr. 2004. ilus
Article in Spanish | LILACS | ID: lil-462246

ABSTRACT

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


Subject(s)
Humans , Child , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/therapy
19.
Rev. colomb. ortop. traumatol ; 17(2): 55-57, jun. 2003. ilus
Article in Spanish | LILACS | ID: lil-354599

ABSTRACT

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


Subject(s)
Foot Deformities, Congenital/surgery , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/rehabilitation , Foot Deformities, Congenital/therapy
20.
Clin Podiatr Med Surg ; 17(3): 471-80, vii, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10943500

ABSTRACT

The author provides a description of the deformity congenital vertical talus, including characteristics and contributing factors. Also outlined are the incidence, cause, and pathogenesis; radiographic features; anatomy; and treatment of the condition. The author includes results and discussion of surgical treatment.


Subject(s)
Foot Deformities, Congenital/surgery , Foot/surgery , Talus/abnormalities , Child , Diagnosis, Differential , Flatfoot/diagnosis , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/etiology , Humans
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