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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
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Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
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Related Experiment Video

Updated: Jun 3, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Goldston syndrome.

Zainab Hussain1, Imrana Masroor, Qurrat-Ul-Ain Haider

  • 1Department of Radiology, The Aga Khan University Hospital, Karachi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|April 2, 2011
PubMed
Summary

Goldston syndrome, a rare condition linking polycystic kidneys and Dandy-Walker malformation, was diagnosed in a fetus during an antenatal scan. Postnatal ultrasounds confirmed the diagnosis, highlighting the importance of early detection in pregnancy.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Pediatric Radiology

Background:

  • Goldston syndrome is a rare genetic disorder characterized by the co-occurrence of polycystic kidney disease and Dandy-Walker malformation.
  • This syndrome can also involve hepatic fibrosis, though it is not always present.
  • Early identification is crucial for managing potential complications.

Observation:

  • A 28-year-old pregnant woman underwent routine antenatal screening at 27 weeks gestation.
  • Ultrasound revealed fetal Dandy-Walker malformation (DWM), indicated by vermis deficiency and a posterior fossa cyst.
  • Enlarged, echogenic kidneys with small cysts and oligohydramnios were also observed.

Findings:

  • The combination of Dandy-Walker malformation and polycystic kidneys in the fetus strongly suggested Goldston syndrome.

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Published on: May 31, 2016

  • Postnatal head and renal ultrasounds confirmed the antenatal findings.
  • The case highlights the utility of advanced imaging in diagnosing rare congenital conditions.

    • Implications:

    • This case underscores the importance of comprehensive fetal anomaly screening during pregnancy.
    • Accurate prenatal diagnosis of Goldston syndrome allows for timely intervention and management planning.
    • Further research into the genetic basis and long-term outcomes of Goldston syndrome is warranted.