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Related Experiment Videos

Robinow Syndrome: a case report.

H Gulcan1, A Akinci, A Aktar

  • 1Department of Pediatrics, Baskent University Faculty of Medicine, Adana, Turkey. handeglcn@yahoo.com

Genetic Counseling (Geneva, Switzerland)
|November 2, 2005
PubMed
Summary
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Robinow syndrome, a rare genetic disorder, was diagnosed in a male newborn with characteristic facial and limb anomalies. Endocrinologic findings suggested androgen insensitivity, with implications for genetic counseling and prenatal diagnosis in high-risk populations.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Robinow syndrome is a rare genetic disorder characterized by distinctive facial features, limb malformations, and genitourinary abnormalities.
  • The autosomal recessive form is more common in populations with high consanguinity rates, increasing recurrence risk.

Observation:

  • A male newborn presented with a fetal face (broad forehead, hypertelorism, retrognathia), mesomelic limb shortening, hemivertebra, and genital hypoplasia.
  • Endocrinologic evaluation revealed elevated testosterone and dihydrotestosterone with normal gonadotropins, suggesting androgen insensitivity.
  • The infant exhibited normal mental and motor development at 3 and 6 months of age.

Findings:

  • The case highlights the phenotypic variability of Robinow syndrome.

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  • Elevated androgens with normal gonadotropins point towards potential androgen receptor pathway dysfunction.
  • Normal neurodevelopmental milestones were observed in this infant.

    • Implications:

    • Early diagnosis and genetic counseling are crucial for families, especially in regions with high consanguinity.
    • Prenatal diagnosis should be considered for subsequent pregnancies to assess recurrence risk.
    • Further research into the genetic and endocrine underpinnings of Robinow syndrome is warranted.