[Cloverleaf skull and bilateral facial clefts]

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Surgery

Background:

• Cloverleaf skull syndrome (Kleeblattschädel syndrome) is a rare congenital malformation characterized by a distinctive cloverleaf-shaped skull.
• This condition results from the premature fusion of multiple cranial sutures, often detectable before birth.

Observation:

• A 5-month-old female infant presented with macrocephaly and cloverleaf skull type craniosynostosis.
• The infant had a history of cleft lip and palate, hydrocephalus treated with a peritoneal shunt, and ocular enucleation due to infection.
• Diagnostic workup included normal cytogenetic (46XX) and echocardiography, but a brain CT scan revealed anomalies associated with hydrocephalus.

Findings:

• The presented case exhibited features of cloverleaf skull syndrome but did not meet criteria for a specific named syndrome.
• The absence of a family history and chromosomal abnormalities indicated a sporadic occurrence of this congenital anomaly.
• Cloverleaf skull can be associated with various craniosynostosis syndromes and other congenital disorders.

Implications:

• This case underscores the variability in presentation of cloverleaf skull syndrome.
• Understanding sporadic presentations is crucial for accurate diagnosis and genetic counseling.
• Further research into the genetic and developmental pathways underlying cloverleaf skull syndrome is warranted.