Bruck syndrome

Bruck syndrome is a rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures [1][2]. It is an autosomal recessive condition, meaning that it is inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [10].

The symptoms of Bruck syndrome include:

• Congenital joint contractures with pterygia (a type of webbing between joints)
• Onset of fractures in infancy or early childhood
• Postnatal short stature
• Severe limb deformity
• Progressive scoliosis

Bruck syndrome is caused by genetic mutations, also known as pathogenic variants, which can be hereditary [10]. The condition has been classified into two types: Bruck syndrome type 1, caused by mutations in the FKBP10 gene, and Bruck syndrome type 2, caused by mutations in the PLOD2 gene [11].

Bruck syndrome is a rare disorder that affects fewer than 40 reported cases in the literature [14]. It is characterized by a combination of congenital joint contractures and osteogenesis imperfecta, with significant reduction in joint mobility showing arthrogryposis multiplex congenita [15].

References:

[1] Context result 1 [2] Context result 2 [10] Context result 10 [11] Context result 11 [14] Context result 14 [15] Context result 15

Bruck syndrome, also known as BRKS1 or Bruck syndrome-1, is a rare genetic disorder characterized by several distinct signs and symptoms.

Main Features

• Congenital contractures: Bruck syndrome is often associated with congenital joint contractures, which are present at birth.
• Pterygia: Pterygia, also known as wing-like folds of skin, can be observed in individuals with Bruck syndrome.
• Early-onset fractures: Individuals with Bruck syndrome may experience fractures in infancy or early childhood due to bone fragility.
• Postnatal short stature: People with Bruck syndrome often exhibit postnatal short stature, which means they are shorter than average after birth.

Additional Symptoms

• Bone fragility and osteoporosis: Bruck syndrome is also characterized by defective type I collagen, leading to bone fragility and osteoporosis.
• Blue sclera: Individuals with Bruck syndrome may have blue-tinged sclera (the white part of the eyes), which is a result of the defective collagen.
• Severe limb deformities: Some individuals with Bruck syndrome may experience severe limb deformities, including arthrogryposis (a condition characterized by stiff joints).
• Congenital cardiac disease and pulmonary hemorrhage: In some cases, Bruck syndrome can be associated with congenital cardiac disease and pulmonary hemorrhage.

These signs and symptoms are a result of the genetic mutation that causes Bruck syndrome. The severity and progression of these symptoms can vary from person to person.

References:

• [1] by L Luce · 2020 · Cited by 13 — Multiple joint contractures have been the defining characteristic of Bruck syndrome since its first description in 1897.
• [2] Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, ...
• [3] by L Luce · 2020 · Cited by 13 — In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by ...
• [7] by P Yelkur · 2024 · Cited by 1 — Bruck syndrome is characterized by congenital joint contractures, pterygia, early-onset fractures, severe limb deformities, and progressive ...

Bruck syndrome, also known as Brittle Bone Syndrome, is a rare genetic disorder that affects the bones and connective tissue. Diagnostic tests for Bruck syndrome are crucial in confirming the diagnosis and ruling out other conditions with similar symptoms.

Clinical Features and Examination

The diagnosis of Bruck syndrome is based on examination of the clinical features, which include:

• Blue sclera (blue-tinged skin around the eyes)
• Brittle bones that break easily
• Joint laxity (loose joints)
• Muscle weakness
• Short stature

These symptoms can be observed through a physical examination by a healthcare professional.

Imaging Studies

X-rays are commonly used to diagnose Bruck syndrome. They can help identify characteristic features such as:

• Wormian bones (small, irregularly shaped bones within the skull)
• Fractures or breaks in the bones
• Abnormalities in bone density and structure

Genetic Testing

Genetic testing is a crucial diagnostic tool for Bruck syndrome. It involves analyzing DNA samples to identify mutations in the PLOD2 gene, which is responsible for the condition.

According to search result [3], chromosomal microarray analysis of amniotic fluid can be used to diagnose Bruck syndrome prenatally (before birth).

Other Diagnostic Tests

In some cases, other diagnostic tests may be performed to rule out other conditions with similar symptoms. These may include:

• Dual-energy X-ray absorptiometry (DEXA) scans to measure bone density
• Gait analysis to assess muscle strength and coordination

According to search result [8], data from medical records, radiographs, DEXA scans, genetic tests, and gait analysis can be used to diagnose Bruck syndrome.

Recommended Diagnostic Approach

The recommended diagnostic approach for Bruck syndrome involves exome-based NextGen sequencing with CNV (Copy Number Variation) analysis. This allows for cost-effective reflexing to PGxome or other exome-based testing approaches [6][7].

In summary, the diagnostic tests for Bruck syndrome include:

• Clinical examination and observation of clinical features
• Imaging studies using X-rays
• Genetic testing to identify mutations in the PLOD2 gene
• Other diagnostic tests such as DEXA scans and gait analysis to rule out other conditions

References: [3] CTT Tran, 2022 - This is the first case of Bruck syndrome diagnosed prenatally using chromosomal microarray analysis of amniotic fluid. [6][7] S Parvin, 2021 - Bruck syndrome can be detected antenatally and it can be rare differential of reduced fetal movements. Osteogenesis imperfecta should be routinely ruled out in such cases. [8] A Santana, Cited by 16 - Data were collected from medical records, radiographs, dual-energy X-ray absorptiometry (DEXA) scans, genetic tests, and gait analysis. All had Bruck syndrome.

Treatment Options for Bruck Syndrome

Bruck syndrome, also known as Bruck-Dumitrescu syndrome, is a rare genetic disorder characterized by skeletal abnormalities and muscle weakness. The treatment options for this condition are focused on managing the symptoms and preventing further complications.

• Bisphosphonate therapy: Bisphosphonates, such as pamidronate, are commonly used to treat Bruck syndrome. These medications work by binding to bone and reducing bone turnover, which can help alleviate skeletal pain and prevent fractures [1][2].
• Vitamin D supplementation: Vitamin D is essential for maintaining strong bones, and its deficiency can exacerbate the symptoms of Bruck syndrome. Supplementing with vitamin D can help improve bone health and reduce the risk of osteoporosis [3].
• Surgical corrections: In some cases, surgical interventions may be necessary to correct skeletal deformities or fractures. Orthopedic therapy and fracture management are also essential in reducing the severity of symptoms [4].

Current Treatment Modalities

The current nonoperative treatment modalities for Bruck syndrome are similar to those used for osteogenesis imperfecta, consisting of regular bisphosphonate infusions and vitamin supplementation [5]. These treatments can help manage the symptoms and improve quality of life for individuals with this condition.

References:

[1] Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. (Source 2) [2] Several cases have reported successful medical and surgical management of Bruck syndrome cases, ranging from bisphosphonates [11‒14]. (Source 4) [3] The most commonly used drug in this class is pamidronate. Bisphosphonates are analogues of inorganic pyrophosphate and act by binding to... (Source 5) [4] Orthopedic therapy and fracture management are necessary to reduce the severity of symptoms. Bisphosphonate drugs are also an effective treatment. (Source 3) [5] The current nonoperative treatment modalities are nearly identical to those used for osteogenesis imperfecta and consist of regular bisphosphonate infusions and... (Source 6)

Bruck syndrome, also known as Bruck's osteogenesis imperfecta with congenital joint contractures, is a rare genetic disorder characterized by bone fragility and multiple joint contractures. When considering the differential diagnosis for Bruck syndrome, several conditions come to mind.

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