[Cloverleaf skull and bilateral facial clefts]
Denisse Alvarez-Manassero1, Gioconda Manassero-Morales2
1Escuela de Medicina, Universidad Peruana de Ciencias Aplicadas, Lima, Perú; Sociedad Científica de Estudiantes de Medicina de la Universidad Peruana de Ciencias Aplicadas, Lima, Perú
Insights
Cloverleaf skull syndrome, a rare condition causing a cloverleaf-shaped head due to premature suture closure, can occur alone or with other birth defects. This case highlights a sporadic presentation without a specific syndrome.
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.
Introduction:
Cloverleaf skull syndrome, or Kleeblattschädel syndrome, is a rare malformation in which the skull has a cloverleaf appearance. It is caused by the premature closure of several sutures, being evident before birth.
Objective:
To present our experience in a case of cloverleaf skull syndrome, and update the information from the literature.
Clinical Case:
A female infant of 5 months of age, diagnosed at birth with cleft lip and palate and hydrocephaly. A peritoneal ventricle valve was implanted at 30 days of life, and an ocular enucleation was performed due to an infectious process. The patient was followed-up in Genetics, where it confirmed a macrocephaly and craniosynostosis type cloverleaf skull. The 46XX cytogenetic study and echocardiography were normal. The brain CT scan showed multiple anomalies associated with hydrocephaly and non-specific malformations.
Conclusion:
Cloverleaf skull may be present in isolated form or associated with other congenital abnormalities, leading to various craniosynostosis syndromes, such as Crouzon, Pfeiffer or Carpenter. It may also be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune. The case presented does not fulfil all the characteristics needed to be included within a specific syndrome, and on not having a family history that suggests a hereditary pattern or chromosome abnormalities, it is concluded that it is a case of a congenital anomaly of sporadic presentation.
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