Clinical Neurology · Child Neurology
Congenital Skull Malformations
Congenital malformations of the skull — craniosynostoses and associated syndromes.
| Malformation | Description |
|---|---|
| Scaphocephaly / Dolichocephaly ("boat-head" / "elongated") | Premature sagittal suture closure → narrow elongated skull |
| Trigonocephaly | Premature metopic suture closure → narrow forehead |
| Brachycephaly | Premature coronal suture closure → short head |
| Pansynostosis | Closure of all sutures → microcephaly |
| Plagiocephaly ("skew head") | Premature closure of either one coronal or one lambdoid suture |
Syndromes associated with craniosynostosis
| Syndrome | Features |
|---|---|
| Crouzon | Brachycephaly → shortened depth of anterior cranial fossa, proptosis; may be associated with conductive hearing loss, brain malformations, or mental retardation |
| Apert | Similar to Crouzon with soft-tissue syndactyly (2nd, 3rd, 4th fingers and all toes), beaked nose, flat facies |
| Carpenter | Craniosynostosis plus mental retardation, syndactyly, obesity |
| Jackson-Weiss | Craniosynostosis plus mental retardation and large widely-spaced big toes |
| Pfeiffer | Craniosynostosis plus mental retardation, syndactyly, broad great toes & thumbs, hypertelorism, beaked nose |
| Antley-Bixler | Craniosynostosis plus mental retardation, bowed ulna/femur, fused interphalangeal joints, proptosis |
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