What Is Sacral Agenesis?

Sacral agenesis is a rare condition where there is maldevelopment of the sacrum and surrounding structures. It is often is associated with maternal diabetes mellitus.

It is either thought to be a condition which is teratogenically induced or is a spontaneous genetic mutation. There is failure of embryonic induction of the caudal notochord sheath and ventral spinal cord but dorsal ganglia and the dorsal  portion of the spinal cord continue to develop normally. The vertebrae and motor nerves do not develop, and the sacral agenesis results. Sensation remains intact because the dorsal ganglia and the dorsal portion have developed normally. [Read more...]

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Clinical Photograph Of Duplication Of Thumb or Preaxial Polydactyly

Duplicated thumb is an example of preaxial polydactyly. I am presenting clinical photographs of a young girl with duplicated thumb.

Here is a view from palmar aspect

Duplication of thumb

Palmar View of Duplicated Thumb

Here is a view from dorsal side. [Read more...]

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Xrays of Fracture of Distal Tibia In A Child Following Spoke wheel Injury

A five years old child had an open fracture of distal tibia followinga twisting injury after his foot got stuck in revolving cycle spokes.

The child was seen in casualty and there was no other injury except this one. tibi proximal end was found jutting out of the wound. The wound was cleaned and bone was repositioned inside the skin and after splinting with Cramer wire, following xrays were done.

Distal tibia fracture in child following spoke wheel injury

Spoke Wheel Injury Resulted In Fracture Distal Tibia

The child was taken for wound debridement and external fixation. Here is the postoperative xray with aligned bone and external fixator in position. [Read more...]

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Alendronate Does Not Reduce Fractures in Pediatric Osteogenesis Imperfecta

Oral bisphosphonate alendronate does noot reduce the incidence of fractures in children with osteogenesis imperfecta. This has been suggested by findings findings published November 24th online in The Journal of Clinical Endocrinology & Metabolism.

With an objective  to study the efficacy and safety of daily oral alendronate  in children with osteogenesis imperfecta, Dr Ward et al conducted a multicenter, double-blind, randomized, placebo-controlled study.

The study included 139 children between  4–19 years of age having  with type I, III, or IV osteogenesis imperfecta. [Read more...]

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Vitamin D Supplements Do Not Benefit Healthy Children

A systematic review study published in Cochrane Database of Systematic Reviews has revealed that use supplements of vitamin D, is not consistent with improvement of bone density in children with normal vitamin D levels. However a definite benefit in vitamin D deficient children was observed. [Read more...]

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Myasthenia Gravis In Children

Myasthenia gravis most commonly affects adults and elderly, but it has been known to occur at any age.Presentation and causes of myasthenia like picture in children differ from adults.

Three types of myasthenic symptoms in children can be distinguished.

Neonatal Myasthenia Gravis

It occurs in 12% of the pregnancies with a mother with myasthenia gravis. In such cases the mother passes the antibodies to the infant through the placenta causing neonatal myasthenia gravis.

The symptoms will start in the first two days and disappear within a few weeks after birth.

Congenital Myasthenic Syndrome

Children of a healthy mother can, very rarely, develop myasthenic symptoms beginning at birth. This is called congenital myasthenic syndrome.  It is not caused by an autoimmune process, but due to synaptic malformation, which in turn is caused by genetic mutations.

Thus, CMS is a hereditary disease. More than 11 different mutations have been identified and the inheritance pattern is typically autosomal recessive.

The types of CMS are classified into three categories: presynaptic, postsynaptic, and synaptic.

Presynaptic symptoms include brief stops in breathing, weakness of the eye, mouth, and throat muscles. These symptoms often result in double vision and difficulty chewing and swallowing.

Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk. Onset symptoms for all ages may include droopy eyelids.

A particular form of postsynaptic CMS (slow-channel CMS) includes severe weakness beginning in infancy or childhood that progresses and leads to loss of mobility and respiratory problems in adolescence or later life.

Synaptic symptoms include early childhood feeding and respiratory problems, reduced mobility, curvature of the spine, and weakness, which causes a delay in motor milestones..

Juvenile Myasthenia Gravis

It is myasthenia occurring in childhood but after the peripartum period.

[Text adapted from Wikipedia]

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What Is Scheuermann’s kyphosis

Scheuermann’s disease or  Scheuermann’s kyphosis is a self limiting disorder of the childhood. In this condition where the vertebrae grow unevenly resulting  in the wedging shaped vertebrae, resulting in kyphosis. Patients have an increased kyphosis in the thoracic or thoracolumbar spine with associated backache and localized changes in the vertebral bodies.Typically, the kyphosis is more pronounced in thoracic spine.

The condition is also known as juvenile kyphosis.

Pathophysiology

The event leading to deformity is osteochondrosis of the secondary ossification centers of the vertebral bodies involving lower dorsal and upper lumbar vertebrae.

Exact cause and mechanism is not known.

There seems to be a hereditary pattern but exact path is not understood yet.

Scheuermann’s disease is thought to affect  0.4-8% people. [Read more...]

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Tibia Vara – Xray Showing Varus Deformity In Both Tibia

A varus deformity in tibia means that the bone has bent  inwards (towards opposite leg).

The following xray is of 3 years old male child who presented with progrssively increasing  defomity of both legs.

bilateral-tibia-varus-deformity

The xray of the child revealed bilateral tibia vara. [Read more...]

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Types of Dwarfism

Term dwarfism is used to describe a person of short stature.
It can be

  • Disproportionate dwarfism : One or more body parts arerelatively large or small in comparison to those of a normal adult.
  • Proportionate dwarfism: The body appears normally proportioned, but is clearly abnormally small.

Dwarfism is not necessarily a disorder. It can be a naturally occurring consequence of a person’s genetics.

Dwarfism can be classified by the location of the shortness or the structure causing it. [Read more...]

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Leri Weill Dyschondrosteosis

Leri Weill Dyschondrosteosis is a type of dysplasia associated with Madelung deformity. It is a form of mesomelic dwarfism and was first described by Leri and Weill in 1929. Leri Weill dyschondrosteosis is characterized by

  • Variable short stature
  • Short forearms,
  • Tibial/fibular shortening.

[Read more...]

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