Displasia esquelética / Skeletal displasia

Las displasias músculo-esqueléticas o también conocidas como osteocondrodisplasias o displasias esqueléticas, constituyen un grupo heterogéneo de trastornos que afectan el crecimiento, la morfología y el desarrollo de ese sistema. El diagnóstico prenatal de una displasia esquelética específica es difícil y la Osteogénesis imperfecta tipo II es una de ellas. El objetivo del trabajo es resaltar la importancia del diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto, por ultrasonografía, en la atención primaria de salud. Presentamos las imágenes ecográficas de un feto afectado por una displasia esquelética a las 18 semanas. Previo asesoramiento genético y dado el mal pronóstico con que cursan estos casos de displasias esqueléticas letales, la paciente decidió la terminación del embarazo. El diagnóstico de displasia esquelética fue confirmado por Anatomía Patológica e Imagenología(AU)

Skeletal dysplasias, also known as osteochondrodysplasias, refer to a group of disorders described by abnormalities in the development, growth, and maintenance of both bone and cartilage. The prenatal diagnosis of skeletal dysplasia is very difficult and the lethal osteogenesis imperfect type II is the only one that can be consistently detected in utero. To highlight the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. We present the sonographic images of a fetus affected by skeletal dysplasia at 18 weeks. After genetic counseling and given the poor prognosis with cases of skeletal lethal dysplasias, the patient decided to terminate the pregnancy. The diagnosis of skeletal dysplasia was confirmed by Pathology and Imaging(AU)

Tracheobronchopathia osteochondroplastica: A rare cause of difficult intubation.

Tracheobronchopathia osteochondroplastica is a rare benign airway disorder which is characterised by submucosal nodules projecting into the tracheo-bronchial lumen usually involving the cartilaginous portions of the tracheo-bronchial tree or larynx. The condition is usually asymptomatic but can rarely present with difficulty during endotracheal intubation or rarely with obstructive airway complications. Bronchoscopic appearance is usually sufficient to make the diagnosis, and tissue biopsies are seldom required. No specific treatment is required in asymptomatic patients. However, interventional bronchoscopy procedures or surgery may be helpful in symptomatic cases.

Hypoparathyroidism-retardation-dysmorphism syndrome.

Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad- Sakati or hypoparathyroidism‑retardation‑dysmorphism syndrome (HRD). We report 13‑year‑old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.

Skeletal dysplasias in a hospital in southern India.

A hospital based study of skeletal dysplasias was conducted over a period of 2 years in Davangere, Karnataka, in which 169 cases of skeletal dysplasias were studied. One hundred were osteochondrodysplasias and were grouped according to international classification of osteochondrodysplasias. Among the individual cases, osteogenesis imperfecta (13 cases) had the maximum representation. Several cases of rare disorders were also identified. Eighty eight cases of skeletal dysplasias were in the pediatric age group and of these 41 were newborns. The incidence of skeletal dysplasia among newborns was 19.6 per 10,000 deliveries and lethal dysplasias 5.2 per 10,000 deliveries. In 7 cases of skeletal dysplasia, an antenatal diagnosis was possible by ultrasonography.

Prevalencia de displasias esqueléticas en recién nacidos en el Hospital Ruíz y Páez de Ciudad Bolívar. Venezuela. Período 1978-1990 / Prevalence of skeletal dysplasias in newborns at the Ruiz y Paez Hospital in Ciudad Bolívar, Venezuela. Period 1978-1990

Un programa de vigilancia epidemiológica de malformaciones congénitas en efecto en el Hospital Ruíz y Páez de Ciudad Bolívar desde Abril de 1978, nos ha permitido la detección de 25 casos de Osteocondrodisplasias (OCD) en un total de 70.152 nacimientos atendidos en dicho hospital hasta Agosto de 1990, para una prevalencia total de un caso de OCD por cada 2.806 recién nacidos. Las entidades nosológicas encontradas fueron las siguientes: Acondroplasia, Displasia Tanatofórica, Osteogénesis Imperfecta II-A, Displasia Metafisaria de Kniest, Síndrome de Conradi-Hunnerman, Displasia Metafisaria de Jansen, Acondrogénesis de Parenti-Fracaro y Displasia Tóraco-Asfixiante de Jeune. Los resultados aquí reportados indican que este tipo de enfermedades representan un grupo relativamente importante de entidades nosológicas hereditarias que suman no menos de 200 casos nuevos anuales en el país. Esta relativa alta frecuencia, sus diferentes mecanismos hereditarios, sus variables complicaciones y sus índices de morbi-mortalidad, hacen que los pacientes afectados por una OCD constituyan un grupo problemático que no recibe, en general, la atención médica adecuada a su diagnóstico, asesoramiento genético y manejo de complicaciones