Craniosynostosis in children

Syndromes characterized by craniosynostosis are syndromes in which premature fusion of the sutures leads to deformation of the skull. These include:

1. Acrocephaly. Congenital pathology (tower skull). Characteristic signs include a high forehead, poorly developed brow ridges, prognathism of the upper jaw, gothic palate. The deformity occurs due to premature synostosis of all cranial sutures, especially the coronal. The disorder is often accompanied by increased intracranial pressure.

Eye symptoms:

• loss of vision due to atrophy of the optic nerve;
• exophthalmos;
• strabismus;
• amblyopia;
• nystagmus.

2. Crouzon syndrome. An autosomal dominant syndrome with complete penetrance and variable expressivity. Characterized by premature fusion of the cranial sutures, median facial hypoplasia, and exophthalmos. The defective gene is localized on chromosome 10. Typical facial anomalies include exophthalmos due to decreased orbital volume, hooked nose, and protruding lower jaw. Increased intracranial pressure is possible.

Eye symptoms include:

• exophthalmos, and sometimes dislocation of the eyeball;
• divergent strabismus in V-syndrome and other forms of strabismus;
• optic nerve atrophy or papilledema;
• colobomas of the iris;
• corectopia;
• change in the size of the cornea (micro- or megalocornea);
• cataract;
• ectopia lentis;
• blue sclera;
• glaucoma.

3. Apert syndrome. The pathology is manifested by craniosynostosis and bilateral symmetrical syndactyly of the II, III, IV and V fingers and toes. It is inherited in an autosomal dominant manner with a high level of spontaneous mutations.

Common manifestations include:

• gothic sky;
• cleft palate;
• tracheoesophageal fistula;
• congenital heart defects;
• hydrocephalus;
• mental retardation.

Typical facial anomalies are similar to those seen in Crouzon syndrome - underdeveloped brow ridges, median hypoplasia, protruding lower jaw and malformations of teeth. In some cases, there is pathology of the hearing organ, including deafness.

Eye symptoms:

• exophthalmos - usually more pronounced than in Crouzon syndrome;
• hypertelorism;
• anti-mongoloid eye shape;
• strabismus in V-syndrome;
• optic nerve atrophy and papilledema;
• keratoconus;
• ectopia lentis;
• congenital glaucoma.

4. Pfeiffer syndrome.

The syndrome includes acrocephaly, mild syndactyly with broad thumbs and toes, and varus deformity of the limbs. It is inherited in an autosomal dominant manner and is characterized by high penetrance and variable expressivity.

Pathological changes in the face and eyes are similar to those in Apert syndrome, but mental retardation is less common.

5. Skull in the shape of a clover leaf.

A sporadic disorder. The skull has a blunted, trilobate shape, caused by premature fusion of the coronal and lambdoid sutures. Pronounced exophthalmos is caused by a sharp decrease in the volume of the orbits, a typical problem is subluxation of the eyeballs. As a rule, it is accompanied by hydrocephalus and respiratory pathology. Median facial hypoplasia is weakly expressed. The life expectancy of these patients is sharply reduced.

5. Saethre-Chotzen syndrome. Manifested by facial and cranial asymmetry in combination with short fingers, cutaneous syndactyly and low hair growth on the forehead. Median facial hypoplasia is weakly expressed, exophthalmos is not typical.
6. Carpenter syndrome. The syndrome includes severe craniosynostosis, polysyndactyly of the fingers and toes, and shortening of the fingers. The disorder is often accompanied by mental retardation. Ocular manifestations include hypertelorism, epicanthus, and telecanthus.

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