Síndrome de Timothy: relato de caso / Timothy syndrome: case report

Na síndrome de Timothy, caracterizada pela presença de QT longo (intervalo QT entre 480-700 ms) e de sindactilia cutânea e/ou óssea, além de outras manifestações, a causa mais comum de morte é secundária a taquiarritmias. Relata-se o caso de paciente do sexo feminino, com 1 ano e 3 meses de idade, que evoluiu no segundo dia de vida com bradicardia e apneia de resolução espontânea. O eletrocardiograma evidenciou bloqueio atrioventricular de 2o grau e bradicardia, sendo submetida a implante de marcapasso epicárdico e posterior troca de cabo-eletrodo, evoluindo durante o procedimento com parada cardiorrespiratória em fibrilação ventricular, que foi revertida. Ao ser encaminhada para implante de cardiodesfibrilador em nosso serviço, cerca de 30 dias após o procedimento, apresentava febrícula esporádica, sem comprometimento do estado geral, e bom desenvolvimento pôndero-estatural e neuropsicomotor. Durante a internação, apresentou nova parada cardiorrespiratória em fibrilação ventricular, falecendo antes do procedimento...

Timothy syndrome is characterized by the presence of long QT interval (between 480-700 ms) and skin and/or bone syndactyly, in addition to other manifestations and the most common cause of death is secondary to tachyarrhythmias. We report the case of a female patient, with 1 year and three months of age who evolved with bradycardia and apnea of spontaneous resolution. The ECG showed 2nd degree atrioventricular block and she was submitted to epicardial pacemaker implantation and lead exchange. During the procedure she had a cardiorespiratory arrest due to ventricular fibrillation which was reverted. At admission for cardiodefibrillator implantation, approximately 30 days after the procedure, she had sporadic mild fever, which did not have na impact on her overall condition and she had good stature and psychomotor development. During hospitalization, she had a new cardiorespiratory arrest caused by ventricular fibrillation and died before the procedure...

Poland syndrome.

Poland’s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8‑year‑old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

Hipoplasia dérmica focal / Focal Dermal hypoplasia

La hipoplasia dérmica Focal (síndrome de Goltz) es una rara displasia ecto y mesodérmica, caracterizada por efectos cutáneos, esqueléticos, dentales, oculares y del tejido blando. Las mayor incidencia en mujeres se debe a un modo de herencia dominante ligada al X. Recientemente se detectaron mutaciones en el gen PORCN (locus Xp 11.23). Presentamos dos casos de esta entidad con revisión bibliográfica en su aspecto clínico, histopatológico, diagnostico y terapéutico.

Focal dermal hypoplasia (Goltz syndrome) is a rare mesoectodermal dysplasia characterized bydefects of the skin, skeletal system, teeth, eyes and soft tissue. The predominance of femalessuggests a form of X-linked dominant inheritance in most cases. Recently mutations in the genePORCN (locus Xp11.23)were identify in Goltz syndrome patiens.We present two cases of this entity in clinical appearance, histopathology, diagnosis andtreatment, with bibliographical review.

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.

Fraser syndrome.

Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

Fraser syndrome: recurrence in a family.

Fraser syndrome is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, genitourinary mal-formations and mental retardation. We report a family with affected child where the pregnant woman was referred at 24 weeks of gestation for termination of pregnancy. The aborted fetus showed typical findings suggestive of Fraser syndrome.

Hipoplasia de tibia, polidactilia y pulgar trifalángico: primera familia descrita en Venezuela / Hypoplasia of tibia polydactyly and triphalangeal thumbs: first family described in Venezuela

Werner en 1915, describió un paciente con las siguientes características: aplasia o hipoplasia bilateral de tibia, polidactilia y ausencia de pulgares. El modo de herencia es autosómico dominante, con expresividad variable. El objetivo de este trabajo es describir una niña en la que se demostró clínica y radiológicamente la presencia de signos compatibles con el diagnóstico de Hipoplasia de Tibia con Polidactilia. El estudio genealógico permite suponer que el gen tiene una expresividad variable, ya que por la línea materna se encontraron malformaciones tales como: sindactilia en manos, implantación proximal de pulgares y tibia vara. Se discuten los aspectos clínicos, radiológicos y genéticos

Polysyndactyly, gelastic seizures, hypothalamic hamartoma and precocious puberty - a variant of Pallister-Hall syndrome?

Os autores relatam o caso de uma menina portadora de polissindactilia, que apresenta crises gelásticas desde o período neonatal. Aos dois anos de idade, foi detectada, através da ressonância magnética, lesäo hipotalâmica sugestiva de hamartoma. Logo após, a partir do surgimento de pelos pubianos, foi diagnosticada puberdade precoce. As características mencionadas sugerem tratar-se de uma variante da síndrome de Pallister-Hall. A conduta terapêutica tem sido conservadora, apesar da resposta pobre aos anticonvulsivantes.

Hemimelia tibial / Tibial hemimelia

Descreve-se um caso de hemimelia tibial do membro inferior direito associada à sindactilia e oligodactilia em maos e pés, com desenvolvimento neuro-psicomotor normal.