Hemimelia tibial: Presentación de un caso / Tibial Hemimelia

Introducción: La hemimelia tibial o hemimelia paraxial longitudinal tibial, es una deficiencia congénita de la tibia. Esta deficiencia de los miembros inferiores longitudinal tibial, es muy rara y su frecuencia está en el orden de 1: 1 000 000 de niños nacidos vivos. Objetivo: Presentar un caso de hemimelia tibial diagnosticado por medio del cuadro clínico y radiografías y tratado quirúrgicamente. Presentación del caso: Paciente masculino de dos horas de nacido, atendido por presentar malformación congénita a nivel de la pierna derecha que se presentaba acortada con una prominencia dura a nivel proximal y el pie con deformidad marcada en supinación, aducción y rotación interna. Se realizó examen físico exhaustivo de la extremidad afecta y se constató el acortamiento evidente de la misma. Se indicó radiografía anteroposterior y lateral de la pierna y se observó que el segmento proximal de la tibia y el peroné estaban bien, pero con implantación alta, por lo que se diagnosticó una hemimelia tibial tipo II de Jones. Luego del alta el niño recibió seguimiento por consulta de Genética y el servicio de Ortopedia donde se decidió someterlo a un primer tiempo quirúrgico a los 6 meses de edad, mediante tibialización del peroné. A los 10 meses se realizó un segundo tiempo quirúrgico para centrar el astrágalo al peroné. Conclusiones: La hemimelia tibial se considera un diagnóstico poco frecuente en nuestro medio. No existe prevención conocida. El tratamiento es complejo y altamente especializado, y en algunos casos requiere la amputación temprana del miembro afectado para adaptar al paciente al uso de prótesis(AU)

Introduction: Tibial hemimelia or tibial longitudinal paraxial hemimelia is a congenital deficiency of the tibia. This tibial longitudinal lower limb deficiency is very rare and its frequency is in the order of 1: 1,000,000 live births. Objective: To report a case of tibial hemimelia diagnosed through the clinical condition and radiographs and treated surgically. Case report: We report the case of a two-hour-old male patient, treated for a congenital malformation at the level of the right leg that was shortened with a hard prominence at the proximal level and the foot with marked deformity in supination, adduction and internal rotation. An exhaustive physical examination of the affected limb was carried out and its evident shortening was confirmed. Anteroposterior and lateral X-rays of the leg were indicated and it revealed that the proximal segment of the tibia and fibula were fine, but with high implantation, for which a Jones type II tibial hemimelia was diagnosed. After discharge, the child was followed up by the Genetics consultation and the Orthopedics service, where it was decided to undergo a first stage surgery at 6 months of age, by means of tibialization of the fibula. At 10 months, a second surgical time was performed to center the talus to the fibula. Conclusions: Tibial hemimelia is considered a rare diagnosis in our setting. There is no known prevention. Treatment is complex and highly specialized, and in some cases requires early amputation of the affected limb to adapt the patient to the use of a prosthesis(AU)

Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.

Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome.

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents the periodontal status of three patients in a family with EEC syndrome. The presence of generalized aggressive periodontitis was noticed in these patients. EEC syndrome could be a new addition to the group of genetic disorders associated with aggressive periodontitis.

Familial clustering of a rare syndrome.

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.

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.

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.

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.