Greenberg dysplasia

Severe Bone Abnormalities in Developing Fetus

Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. The main features include:

• Fetal Hydrops: Severe swelling all over the body
• Shortened Limbs (Micromelia): Legs and arms are severely shortened
• Extra Fingers or Toes (Polydactyly): May have extra fingers or toes
• Severe Short-Limbed Dwarfism: Marked disorganization of chondro-osseous calcification
• Unusual Facial Features: Not specified in the provided context, but may include other abnormalities

Radiographic Appearance

Bones have a spotted, moth-eaten look when seen on an X-ray.

Other Signs and Symptoms

• Polyhydramnios (excess amniotic fluid)
• Cystic hygroma (fluid-filled sac in the neck or chest)
• Platyspondyly (abnormal flattening of the vertebrae)

These signs and symptoms are typically present at birth, but may not be immediately apparent. Prenatal ultrasound diagnosis can reveal some of these abnormalities during pregnancy.

References:

• [1] Severe bone abnormalities in developing fetus
• [2] Fetal hydrops, severe short-limbed dwarfism, and marked disorganization of chondro-osseous calcification
• [3] Spotted, moth-eaten look on X-ray
• [4] Polyhydramnios, cystic hygroma, and platyspondyly

Diagnostic Tests for Greenberg Dysplasia

Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), is a rare and severe skeletal dysplasia. Diagnosing this condition can be challenging, but several diagnostic tests can help confirm the diagnosis.

• Prenatal Ultrasound: A prenatal ultrasound is usually the first diagnostic test used to detect Greenberg dysplasia. This test can reveal bone abnormalities and swelling of the body (hydrops fetalis) that develop in this condition [3].
• Genetic Testing: Genetic testing is a crucial diagnostic tool for Greenberg dysplasia. It involves analyzing DNA samples from affected individuals or their family members to identify pathogenic variants in the LBR gene [5, 8]. This test can confirm the diagnosis and provide information on the genetic cause of the condition.
• X-ray Imaging: X-ray images can reveal the distinctive moth-eaten bone appearance characteristic of Greenberg dysplasia [9].
• Clinical Examination: A clinical examination by a healthcare professional can help identify symptoms associated with Greenberg dysplasia, such as short limbs and abnormal chondro-osseous calcification [11].

Additional Diagnostic Tests

Other diagnostic tests may be used to support the diagnosis of Greenberg dysplasia or rule out other conditions. These include:

• Blood Tests: Blood tests can help identify genetic variants associated with Greenberg dysplasia.
• Bone Marrow Analysis: Bone marrow analysis can provide information on the presence of morphologic dysplasia and help distinguish Greenberg dysplasia from other conditions [12].

Important Note

It is essential to consult a healthcare professional or a specialist in skeletal dysplasias for accurate diagnosis and management of Greenberg dysplasia. They can interpret diagnostic test results, provide guidance on further testing, and offer support for affected individuals and their families.

References:

[3] Context 3 [5] Context 5 [8] Context 8 [9] Context 9 [11] Context 11 [12] Context 12

Greenberg Dysplasia Differential Diagnosis

Greenberg dysplasia, also known as dappled diaphyseal dysplasia, is a rare genetic disorder characterized by skeletal abnormalities and other systemic features. When considering differential diagnosis for this condition, several conditions should be taken into account.

• Chondrodysplasia Punctata Conradi-Hünermann Type (MIM 302960): This condition presents with similar skeletal abnormalities as Greenberg dysplasia, including short stature, brachydactyly, and polydactyly [7].
• Hydrops-ectopic calcification-moth-eaten skeletal dysplasia: This condition is a defect in cholesterol biosynthesis that can present with severe fetal hydrops and phokomelia, similar to Greenberg dysplasia [4].
• Brachydactyly and polydactyly: These defects are also seen in Greenberg dysplasia and may be another potential effector of impaired vitamin D metabolism [7].

Other conditions that should be considered in differential diagnosis include:

• Fetal skeletal surveys: Show deficient ossification of the skull, severe midface hypoplasia, and micrognathia, which are similar to findings in Greenberg dysplasia [9].
• Phokomelia on antenatal sonography: This condition presents with severe fetal hydrops and phokomelia, similar to Greenberg dysplasia [3][5][10].

It is essential to consider these conditions when diagnosing Greenberg dysplasia, as they may present with similar clinical features.

References:

[1] LC Horn · 2000 · Cited by 33 — Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography. [3] LC Horn · 2000 · Cited by 33 — Greenberg dysplasia should be considered in differential diagnosis of cases with severe fetal hydrops (see this term) and phokomelia on antenatal sonography. [4] Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. Greenberg characterized the condition in 1988. [5] by LC Horn · 2000 · Cited by 33 — Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography. [7] Brachydactyly and polydactyly are also seen in Greenberg dysplasia and may be another potential effector of impaired vitamin D metabolism. [9] Fetal skeletal surveys show deficient ossification of the skull, severe midface hypoplasia, and micrognathia, which are similar to findings in Greenberg dysplasia. [10] Phokomelia on antenatal sonography presents with severe fetal hydrops and phokomelia, similar to Greenberg dysplasia.