Osteogénesis imperfecta tipo II: estudio de dos casos / Osteogenesis imperfecta type II: report of two cases

Se presentan dos casos clínicos de fetos con osteogénesis imperfecta tipo II, productos de partos vaginales de pretérmino, de sexo femenino, ambos sin signos vitales y con malformaciones congénitas evidentes desde el punto de vista esquelético. En ambos fetos se evidencia al estudio macroscópico cráneo blando y aplastado, colapso de la región tóracoabdominal, acortamiento de las extremidades y genitales externos femeninos. En la disección se aprecia hipoplasia pulmonar y malrotación intestinal. El estudio radiológico evidencia ausencia total de osificación para el primer feto y solo puntos rudimentarios para la base del cráneo, omóplato, húmero, un hueso del antebrazo, el ilíaco, el fémur y un hueso de la pierna, para el segundo feto. El tratamiento actual del que se dispone está muy lejos de ser exitoso y se restringe a terapia ortopédica y administración de bifosfonatos. El trasplante de células mesenquimáticas y su transformación a células osteogénicas, abre nuevas perspectivas en el manejo de la enfermedad

We present two clinical cases of fetuses with osteogenesis imperfecta type II, products of preterm vaginal deliveries, both females, without vital signs and congenital malformations evident in the skeletal system. Macroscopical study shows in both fetuses soft and crushed skull, collapse of the thoracoabdominal region, shortening of the limbs and external female genitalia. Pulmonary hypoplasia and intestinal malrotation are evident at the dissection. Radiological screening shows total absence of ossification for the first fetus and only rudimentary points for the base of the skull, scapula, humerus, a forearm bone, the ilium, femur and leg bon for the second fetus. Current treatment available is far from being successful and is limited to orthopedic therapy and administration of bisphosphonates. Transplantation of mesenchymal cells and their transformation into osteogenic cells, opens new perspectives on the management of the disease

Anomalias ósseas congênitas em sotalia guianensis (mammalia, cetacea, delphinidae) da costa centro-norte do estado do Rio de Janeiro / Congenital bone defects in guiana dolphin, sotalia guianensis (mammalia, cetacea, delphinidae) in the northcentral coast of Rio de Janeiro state, Brazil

Carcaças de botos-cinza Sotalia guianensis (van Bénéden, 1864) foram recuperadas entre 20 de agosto de 2001 e 13 de fevereiro de 2006, na costa centro-norte fluminense. A maior parte delas (85 por cento) entre Barra de São João (22º35'S 41º59'W) e Quissamã (22º06'S 41º28'W). Foram estudadas as colunas vertebrais dos 20 exemplares que apresentavam mais de 60 por cento das vértebras presentes. A coleção é formada por 75 por cento de animais imaturos, e todos os esqueletos mostram alterações tafonômicas mínimas. Duas categorias de anomalias congênitas foram diagnosticadas, ambas relacionadas ao desenvolvimento do mesoderma paraxial. A sétima vértebra cervical (C7) foi a única afetada, as costelas cervicais e o não fechamento do arco neural atingiram 15 (75 por cento) dos indivíduos analisados, dos quais três (15 por cento) apresentam ambas as anomalias. Nove (45 por cento) indivíduos apresentaram costelas cervicais uni ou bilateral, e nove (45 por cento) indivíduos apresentaram não fechamento do arco neural; em todos os casos as vértebras contíguas eram normais. A ocorrência de anomalias nesta série do Rio de Janeiro é maior do que as referidas na literatura brasileira para outras séries de Sotalia do Amazonas, Ceará e Santa Catarina. A série de Sotalia descrita vem de uma região do litoral muito limitada e provavelmente representa uma população local. As costelas cervicais são geneticamente determinadas e podem estar concentradas por uma condição de grande proximidade biológica entre os animais; o não fechamento do arco pode ter também um componente ambiental, a ser investigado futuramente.

Carcasses of Guiana dolphins, Sotalia guianensis (van Bénéden, 1864) were recovered from August 20, 2001 to February 13, 2006 along the north-central coast of Rio de Janeiro state. Most of the animals (85 percent) were found between Barra de São João (22º35'S 41º59'W) and Quissamã (22º06'S 41º28'W). We studied the vertebral columns of all the 20 specimens that had more than 60 percent of the vertebrae preserved. The series has 75 percent of immature animals and all skeletons displayed a minimum of taphonomic changes. Two categories of congenital anomalies were diagnosed, both related to the development of the paraxial mesoderm. The seventh cervical vertebra (C7) was the only affected; the cervical ribs and the cleft neural arches were present in 15 (75 percent) of the individuals, three (15 percent) of which had both anomalies. Nine (45 percent) individuals had unilateral or bilateral cervical ribs, and nine (45 percent) individuals had cleft neural arches; the contiguous vertebrae were normal in every case. The frequency of these anomalies was higher in that Rio de Janeiro series than in other Sotalia series previously reported in the Brazilian literature for Amazonas, Ceará and Santa Catarina States. The present Sotalia series here described comes from a very limited coastal region probably representing a local population. The cervical ribs are genetically defined and may be concentrated because of a condition of close biological proximity among the animals; the cleft arch could also be determined by environmental factors, to be investigated in the future.

Oculocutaneous albinism associated with axenfeld's anomaly: three case reports

Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism