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[The Dubowitz syndrome]

M Dumić1, M Cvitković, D Letinić

  • 1Klinika za pedijatriju Medicinskog fakulteta Sveucilista u Zagrebu.

Lijecnicki Vjesnik
|May 1, 1994
PubMed
Summary
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This case report details a child with Dubowitz syndrome, highlighting typical symptoms and potential new indicators like sacral cleft. Regular patient follow-up is crucial due to associated health risks.

Area of Science:

  • Genetics and rare diseases
  • Pediatric medicine
  • Clinical case studies

Background:

  • Dubowitz syndrome is a rare autosomal recessive disorder.
  • Characterized by intrauterine and postnatal growth retardation, microcephaly, and distinctive craniofacial anomalies.

Observation:

  • A 27-month-old girl presented with a constellation of symptoms consistent with Dubowitz syndrome.
  • Observed features included growth retardation, microcephaly, epicanthus, nasal dysplasia, thin hair, micrognathia, dysplastic ears, brachyclinodactyly, pectus excavatum, and pilonidal sinus.
  • Behavioral hyperactivity and a high-pitched voice were noted.

Findings:

  • The patient exhibited typical Dubowitz syndrome manifestations.
  • Potentially novel signs, a sacral cleft and a wide-open frontal fontanelle, were observed in this patient.

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  • These findings expand the phenotypic spectrum of Dubowitz syndrome.

    • Implications:

    • Regular medical surveillance is essential for patients with Dubowitz syndrome.
    • Increased incidence of malignant and hematopoietic diseases necessitates vigilant monitoring.
    • Early identification and management can improve outcomes for affected children.