The Effects of Cloverleaf Skull Syndrome

Cloverleaf skull syndrome, also known as Kleeblattschadel syndrome, is an anomaly characterized by synostosis (abnormal development of joints) of multiple or all cranial sutures, and facial dysostosis of the skull (craniofacial malformations) and long bone anomalies. Holtermuller and Wiedemann first recognized the syndrome in 1960 in a four-and-a-half month old child. The chief characteristics of the syndrome are the grotesque, trilobed shape of the skull with severe internal hydrocephalus.

Cloverleaf skull is one of the most rarely seen anomalies and the prognosis is very poor in untreated cases. The main components involved in the deformity include hydrocephalus, trilobed head shape, shallow orbits and midfacial hypoplasia. The disease has been found either alone or in association with other syndromes such as Apert syndrome, Pfeifer’s syndrome and skeletal dysplasias, among others.

Symptoms of Cloverleaf Skull Syndrome

Craniosynostosis is a condition in which early or premature fusion of sutures of bones of the skull occurs. As a result, it restricts the growth of the skull and brain. Since the brain cannot grow in the direction of the fused suture, it is forced to grow in the direction of the open sutures, which results in abnormal head shape and facial features. In some cases, increased pressure on the brain results in developmental delay. From research data, it has been estimated that craniosynostosis (cloverleaf skull syndrome) can occur in 1 out of 2,000 live birth, with some cases occurring as the result of inherited syndromes and other cases occurring sporadically. In the latter case, the cause is still unknown.

In addition to cloverleaf skull syndrome, there are other syndromes that might be associated with the condition due to the presence of fibroblast growth factor receptors. For example, in Crouzon syndrome (symptoms: bulging eyes, beaked nose, flat face), the growth factor receptors are FGFR2 and FGFR3. And in Apert syndrome (symptoms: fused fingers or toes), the growth factor receptor involved is FGFR2.

Diagnosis

Abnormal head shape can also be found due to positional plagiocephaly – flattened head that may develop due to sleeping posture. Though the appearance looks quite similar to cloverleaf skull, the distinction is very crucial. Positional plagiocephaly does not require surgery, while cloverleaf skull does. In addition to abnormal head shape, other features that help in diagnosis include bulging eyes, beaked nose, and flat face, among others.

Treatment

Surgery is done to separate fused sutures of the skull and to reshape the skull. Both orthodontic and orthognathic surgical procedures are used. The surgical treatment has been found to be successful in patients. Endoscopic surgery is being practiced for the treatment of this condition; however, this is done only for very young infants.

References

(Web): Gerald M – Surgical Treatment of Craniosynostosis: Outcome Analysis of 250 Consecutive Patients – https://pediatrics.aappublications.org/cgi/content/full/100/1/e2

(Web): The cloverleaf skull – https://bjr.birjournals.org/cgi/reprint/53/631/730.pdf

(Web): – Springerlink – Histological, Histochemical and Uhrastructural FindingsThe Cloverleaf Skull Syndrome – https://www.springerlink.com/content/h6342p5332417h76/fulltext.pdf?page=1