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Nevo syndrome

B G Hilderink1, H G Brunner

  • 1Department of Pediatrics, Nijmegen University Hospital, The Netherlands.

Clinical Dysmorphology
|October 1, 1995
PubMed
Summary
This summary is machine-generated.

A rare genetic syndrome presents with tall stature, hypotonia, and distinctive hand features in infants. Autosomal recessive inheritance is suggested, with significant motor improvement observed by age three.

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Describes a male patient with a rare genetic syndrome.
  • The patient's family has consanguineous parents, suggesting recessive inheritance patterns.

Observation:

  • The patient exhibited tall stature at birth, hypotonia, wrist drop, and long, spindle-shaped fingers.
  • Clinical features were identical to previously reported cases.

Findings:

  • Autosomal recessive inheritance is supported by parental consanguinity.
  • At age 3, the patient showed significant improvement in hypotonia and motor function.
  • Cognitive ability was within the normal range.

Implications:

  • This case expands the understanding of a rare genetic syndrome.
  • Highlights the potential for significant motor recovery in affected children.
  • Emphasizes the importance of genetic counseling for consanguineous families.