Craniosynostosis in children

Syndromes characterized by craniosynostosis are syndromes, in which premature fusion of the joints leads to deformation of the skull. They include:

1. Acrocephaly. Congenital pathology (tower skull). Characteristic features include a high forehead, poorly developed superciliary arches, prognathism of the upper jaw, Gothic sky. Deformation occurs in connection with a premature synostosis of all the seams of the skull, especially the coronary sinus. The disorder is often accompanied by an increase in intracranial pressure.

Eye symptoms:

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

2. Crouzon Syndrome . Autosomal dominant syndrome with full penetrance and various expressiveness. Characterized by premature fusion of the seam of the skull, midface hypoplasia and exophthalmos. A defective gene is located in the 10 chromosome. Typical facial abnormalities: exophthalmos due to a decrease in the volume of orbits, hook-shaped nose and protruding lower jaw. It is possible to increase intracranial pressure.

Eye symptoms include:

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

3. Syndrome of Aper (Apert). The pathology is manifested by craniosynostosis and bilateral symmetrical syndactyly of II, III, IV and V fingers and toes. Inherited by an autosomal-dominant type with a high level of spontaneous mutations.

Common manifestations include:

• Gothic sky;
• cleft palate;
• tracheo-esophageal fistula;
• congenital heart defects;
• hydrocephalus;
• mental retardation.

Typical abnormalities of the face, reminiscent of those in the Cruson syndrome - underdeveloped superciliary arches, middle hypoplasia, protruding lower jaw and malformations of the teeth. In some cases, there is a pathology of the organ of hearing, down to deafness.

Eye symptoms:

• Exophthalmos - usually more pronounced than with Cruson syndrome;
• hypertelorism;
• antimonyholoid cut of the eyes;
• strabismus in V-syndrome;
• Atrophy of the optic nerve and stagnant nipple;
• keratoconus;
• ectopia of the lens;
• congenital glaucoma.

4. Pfeiffer's syndrome .

The syndrome includes acrocephaly, mild-type syndactyly combined with broad thumbs of the hands and feet, as well as varus deformity of the extremities. It is inherited by autosomal dominant type, characterized by high penetrance and various expressiveness.

Pathological changes in face and eyes are similar to those in Aper's syndrome, but mental retardation is less common.

5. Skull in the form of a leaf clover.

Sporadic disorder. The skull has a blunted, three-lobed shape, caused by premature fusion of the coronoid and lambdoid sutures. Expressed exophthalmus is caused by a sharp decrease in the volume of orbits, a typical problem is the subluxation of eyeballs. As a rule, it is accompanied by hydrocephalus and pathology of the respiratory tract. The medial hypoplasia of the face is weak. The life span of these patients is sharply reduced.

5. Sethre-Chotzen syndrome (Saethre-Chotzen). It is manifested by asymmetry of the face and skull in combination with short fingers, skin syndactyly and low level of hair growth on the forehead. Median hypoplasia of the face is weak, exophthalmos are not characteristic.
6. Carpenter syndrome (Carpenter). The syndrome includes pronounced craniosynostosis, polysyndactyly of the fingers and feet, shortening of the fingers. The disorder is often accompanied by mental retardation. Eye manifestations are hypertelorism, epicanthus and telecanthus.

[1], [2], [3]