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Temporal bone findings in cloverleaf skull syndrome
H Miyata1, Y Kato, M Yoshimura
1Department of Otolaryngology, Gifu University School of Medicine, Japan.
Acta Oto-Laryngologica. Supplementum
|January 1, 1988
Summary
Cloverleaf skull syndrome, a rare condition, presents with a distinctive skull shape and multiple congenital anomalies. This case report details a male infant with a trilobed skull and associated abnormalities, highlighting the syndrome
Area of Science:
- Medical Genetics
- Pediatric Pathology
- Craniofacial Abnormalities
Background:
- Cloverleaf skull syndrome (Kleeblattschädel-Syndrome) was first described in 1960.
- It is a rare congenital disorder characterized by a distinctive trilobed skull shape.
- Syndromic craniosynostosis with associated anomalies.
Observation:
- A case of a 26-day-old male infant with cloverleaf skull syndrome is presented.
- The infant exhibited a trilobed skull, limb abnormalities, low-set ears, auditory canal stenosis, a beak-like nose, microphthalmia, cryptorchidism, and a coccygeal dermal sinus.
- A normal male karyotype was observed.
Findings:
- The right temporal bone revealed anomalies in the external and middle ear structures.
- Narrowing of the bony external auditory canal and mesenchymal tissue filling the middle ear cavity were noted.
- Abnormalities included an incus fused to the tympanic wall and a thickened, anteriorly bent stapes, while the inner ear structures were normal.
Implications:
- This case contributes to the understanding of the phenotypic variability and anatomical defects associated with cloverleaf skull syndrome.
- Highlights the importance of detailed examination of craniofacial and auditory structures in affected infants.
- Further research into the genetic and developmental pathways underlying this syndrome is warranted.