The Wolf-Hirschhorn syndrome. II. Pathologic anatomy

Area of Science:

• Medical genetics
• Developmental biology
• Pediatric pathology

Background:

• Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder.
• Diagnosis is often missed in perinatal deaths.
• Cytogenetic investigation is the standard diagnostic method.

Observation:

• Morphological analysis of perinatal deaths with WHS was conducted.
• External features, brain, eye, and kidney abnormalities were noted.
• Association with diaphragmatic hernia was observed.

Findings:

• Specific external features and malformations of the brain (Ammon's horn, cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia), and kidneys (agenesis, cystic dysplasia, polycystosis) are characteristic of WHS.
• The presence of these morphological findings, particularly when associated with diaphragmatic hernia, can lead to a diagnosis.
• Diagnosis can be established without the need for cytogenetic investigation.

Implications:

• Morphological assessment can facilitate early diagnosis of WHS in stillbirths and neonatal deaths.
• This approach can be valuable in resource-limited settings where genetic testing may not be readily available.
• Improved diagnostic accuracy can aid in understanding the full spectrum of WHS and genetic counseling.