[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]

Area of Science:

• Genetics
• Pediatrics
• Medical Genetics

Background:

• Seckel syndrome presents with intrauterine growth retardation, microcephaly, orofacial dysmorphology (bird-headed appearance), and mental retardation.
• Additional features can include central nervous system, limb, and hair malformations.
• The syndrome exhibits significant variability in symptom expression, contributing to its heterogeneous nature.

Purpose of the Study:

• To review and discuss the morphological features of Seckel syndrome based on existing literature.
• To explore the heterogeneity and potential classifications of Seckel syndrome.
• To emphasize the need for further research into the genetic basis of Seckel syndrome.

Main Methods:

• Literature review of 78 reported cases of Seckel syndrome.
• Analysis of morphological and radiological abnormalities.
• Discussion of genetic inheritance patterns and ethiopatogeny.

Main Results:

• Morphological features, though variable, define Seckel syndrome.
• Three distinct forms of the syndrome have been identified based on radiological findings.
• Seckel syndrome follows an autosomal recessive inheritance pattern.

Conclusions:

• The variability in symptom expressivity is a key factor in the heterogeneity of Seckel syndrome.
• Further genetic linkage studies are crucial for identifying the gene responsible for Seckel syndrome.
• Understanding the underlying abnormal protein is essential for future diagnostic and therapeutic strategies.