syndromic craniosynostosis Flashcards
what is phenotype for crouzon’s ?
craniosynostosis, facial hypoplasia
most cases, involves both coronal sutures. Facial phenotype characteristic, hypertelorism w exophalmos, short upper lip, short nose, relative mandibular prognathism. Exopthalmos due to retrusion of both forehead and maxilla
what is morphology of Pfeiffer’s syndrome?
what are associate features?
In severe forms, the cranial dysmorphy that results from frontoparietal stenosis and temporal bossing may lead to a cloverleaf skull. Congenital hydrocephalus is also present.
Pfeiffer’s syndrome is characterized by brachycephaly and membranous syndactyly of hands and feet with enlarged and deviated thumbs and great toes. Brachydactyly, ankylosis of the elbows, and various visceral malformations can also be present
Apert’s syndrome morphology
It usually affects the coronal suture; the longitudinal sutures are spared. However, anecdotal case reports of children with Apert’s syndrome and trigonocephaly have been described. The face is large, with hypertelorism, exophthalmos with downward-sloping eyes, a parrot-beaked nose, and inverted bite (Fig. 194-1). Cervical vertebrae are also commonly fused.11 Cerebral malformations (in the corpus callosum and limbic structures) may also be present.11,12 Varying degrees of mental deficiency have been associated with Apert’s syndrome; however, affected individuals with normal intelligence have also been reported.
What distinguishes Apert’s syndrome from Crouzon’s syndrome at the faciocranial level is the presence of hypertelorism and an open bite, in which the anterior part of the maxillary alveolar arch is higher than the posterior part. The face and the forehead are also abnormally wide, and the anterior fontanelle is widely open during the first months of life.
What distinguishes Apert’s syndrome from Crouzon’s syndrome at the faciocranial level ? How different on MRI?
What distinguishes Apert’s syndrome from Crouzon’s syndrome at the faciocranial level is the presence of hypertelorism and an open bite, in which the anterior part of the maxillary alveolar arch is higher than the posterior part. The face and the forehead are also abnormally wide, and the anterior fontanelle is widely open during the first months of life.
Faciocraniosynostoses might be associated with brain malformations, such as callosal agenesis, much more frequently than are nonsyndromic isolated craniosynostoses.28 This is particularly true in patients with Apert’s syndrome.11 In our experience of children with Apert’s syndrome, only 25% of them had a normal brain, as demonstrated on MRI.
what is relationship btwn ICP and craniosynostosis?
Increased ICP values are common in syndromic craniosynostosis. Actually, raised ICP is related to the number of affected sutures. The frequency of raised ICP is as high as 30% to 60% in patients with brachycephaly and complex synostosis. The development of raised ICP is a progressive event, inasmuch as the incidence increases with age. Without surgery, the frequency doubles among patients older than 1 year. There is a statistically significant relationship between preoperative elevated ICP and decreased IQ level. The IQ results are better after early surgical treatment of the condition
what is the relationshp of mental delay w syndromic craniofacial?
Mental retardation is common in patients with Apert’s syndrome, which appears to be the most serious condition, and is found in some patients with Pfeiffer’s syndrome, especially those with kleeblattschädel.
On the other hand, mental retardation is rare in Crouzon’s and Saethre-Chotzen syndromes
However, patients who undergo surgery before the age of 1 year have better developmental scores than do those who undergo surgery after the age of 1 year, which indicates that surgery may not necessarily prevent developmental delay but may at least halt further mental deterioration.
what syndromic craniofacial conditions associated w optic atrophy and visual loss?
- visual impairment may follow raised ICP
- more commonly, see visual changes w exopthalmos that is common in syndromic cases
- optic atrophy and visual loss observed mainly with Crouzon’s syndrome
what are surgical goals in relation to hydro with apert syndrome?
In Apert’s syndrome, the ventricular dilation, although commonly present, is rarely progressive, and the posterior cranial fossa is competent to accommodate the potential cerebellar growth. Thus in Apert’s syndrome the first therapeutic problem is to increase the cranial volume to accommodate brain growth and to reduce the abnormal growth, to avoid or at least limit the development of turricephaly.
what are surgical goals in relation to hydro with crouzon’s and Pfeiffer’s syndrome?
Conversely, in Crouzon’s and Pfeiffer’s syndromes, hydrocephalus is often progressive, and the CSF dynamics is precociously impaired by the hypoplastic posterior cranial fossa with secondary crowding of the contained neurovascular structures. Consequently, in these latter syndromes, the first therapeutic problem is the normalization of the abnormal CSF dynamics.
Although the most obvious way to reduce the ICP is to treat the hydrocephalus with an extrathecal CSF shunting, the majority of craniofacial neurosurgeons are reluctant to place a CSF shunt, which would reduce the expanding forces of the intracranial content and thus further enable skull stenosis. For this reason, the craniosynostosis should be addressed first.
What is approach for frontal and posterior expansion for syndromic craniosynostosis?
Nowadays, the expansion of the posterior cranial vault is the first option because it improves CSF circulation, especially within the posterior fossa, and it expands the skull and decompresses the underlying cerebral and vascular structures37; as a result, the effect of many obstructive factors is reduced, and the hydrocephalus is compensated. By the same rationale, an endoscopic third ventriculostomy should be considered40 if the hydrocephalus persists after cranial expansion; in most of the cases, the correction of the anterior part of the skull is postponed to a later age in order to obtain a better and more persistent cosmetic result.
For correcting the anterior aspect of the skull, in older infants, a fronto-orbital advancement by a horizontal tongue-in-groove procedure remains the operation of choice; it is followed by a facial advancement in a subsequent phase. The facial advancement should be postponed for as long as possible. The ideal is to wait until eruption of the final dentition, at about 11 or 12 years of age.
what are most significant risk factors with craniosynostosis repair for syndromic kids?
The major perioperative problem is the continual blood loss and the risk of sudden massive blood loss. Because it is difficult to assess the blood loss with any accuracy and blood loss can be rapid and massive if a sinus is inadvertently disrupted, the surgeon and anesthesiologist must communicate any abnormal blood loss or adverse events immediately. Hemostasis should be investigated after replacement of more than 50% of total blood volume and corrected if necessary. Temperature control is also essential, particularly in patients younger than 1 year, in whom the head constitutes a relatively high percentage of the body surface area.
