Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

New clinical findings in oculo-ectodermal syndrome.

M Silengo1, M Lerone, M Seri

  • 1Dipartimento di Scienze Pediatriche e dell'Adolescenza, Universita' di Torino, Italy. silengo@pediatria.unito.it

Clinical Dysmorphology
|January 29, 2000
PubMed
Summary

This report details a rare Oculo-Ectodermal syndrome case in a 2-year-old boy, expanding its known clinical features. The findings include scalp defects, eye abnormalities, and developmental delays, contributing to the understanding of this rare genetic disorder.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability.

Genetics in medicine open·2024
Same author

Natural history in Malan syndrome: survey of 28 adults and literature review.

Orphanet journal of rare diseases·2024
Same author

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Human genomics·2024
Same author

Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.

Epilepsy & behavior : E&B·2024
Same author

MR Brain Screening in ADPKD Patients : To Screen or not to Screen?

Clinical neuroradiology·2021
Same author

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Bone·2021

Area of Science:

  • Medical Genetics
  • Clinical Medicine
  • Dermatology

Background:

  • Oculo-Ectodermal syndrome is a rare genetic disorder.
  • The syndrome was first described by Toriello et al. in 1993.
  • This case represents the sixth reported instance of this rare entity.

Observation:

  • A 2-year-old male presented with aplasia cutis congenita of the scalp.
  • The patient also exhibited epibulbar dermoids, strabismus, and macrocephaly.
  • Microscopic examination revealed subtle hair changes.

Findings:

  • The patient's presentation is consistent with Oculo-Ectodermal syndrome.
  • The case expands the known clinical spectrum of the syndrome.
  • Additional features observed include mental retardation and seizures.

Related Experiment Videos

Implications:

  • This report contributes to the understanding of the phenotypic variability of Oculo-Ectodermal syndrome.
  • Further research may elucidate the underlying genetic mechanisms.
  • Early diagnosis and management strategies can be informed by expanded clinical data.