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Related Concept Videos

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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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Frank-Ter Haar Syndrome.

Muhammad Saeed1, Qamar Ali Shair, Shah Masabat Saleem

  • 1Department of Paediatric Neurology, The Children Hospital, Taif, Saudi Arabia. muhammad964@hotmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|April 2, 2011
PubMed
Summary
This summary is machine-generated.

Frank-Ter Haar Syndrome (FTHS) is a rare genetic disorder causing multiple abnormalities. This case highlights FTHS in an infant with specific features like macrocornea and congenital heart defects.

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Frank-Ter Haar Syndrome (FTHS) is a rare, autosomal recessive disorder.
  • Characterized by a distinct set of craniofacial, skeletal, and ophthalmological abnormalities.
  • Often associated with developmental delay and congenital anomalies.

Observation:

  • This case report details FTHS in a 4-month-old female infant.
  • The infant presented with club foot, dysmorphic features, and a prominent coccyx with a skin fold.
  • Ophthalmological findings included megalocornea, and cardiac evaluation revealed an atrial septal defect and patent ductus arteriosus.

Findings:

  • The patient exhibited key clinical features consistent with Frank-Ter Haar Syndrome.
  • Specific findings included brachycephaly, macrocornea, congenital heart defects (ASD, PDA), and skeletal abnormalities.
  • The presentation underscores the phenotypic variability and diagnostic challenges of FTHS.

Implications:

  • Early recognition and diagnosis of FTHS are crucial for timely intervention.
  • Management requires a multidisciplinary approach involving geneticists, cardiologists, and orthopedic specialists.
  • Further research into FTHS genetics and pathophysiology can improve patient outcomes.