18 - Orbital Disorders (Congenital and Developmental Disorders: Craniofacial Malformations)

Question 1

(Craniosynostosis)

À quel âge les sutures sont-elles normalement fusionnées?

Answer 1

Cranial sutures normally fuse during the first 2 years of life.

Question 2

(Craniosynostosis)

Définition Craniosynostosis

Answer 2

Craniosynostosis is the premature closure of one or more cranial sutures during the embryonic period or early childhood.

Question 3

(Craniosynostosis)

Où se situe les ostéoblastes permettant le bony growth of the skull?

Answer 3

Bony growth of the skull occurs in osteoblastic centers located at the suture sites.

Question 4

(Craniosynostosis)

V ou F : Premature suture closure prevents parallel growth but allows perpendicular growth.

Answer 4

Premature suture closure prevents perpendicular growth but allows parallel growth.
=Virchow’s law

Question 5

(Craniosynostosis)

What is Virchow’s law?

Answer 5

• Bone is laid down parallel and perpendicular to the direction of the suture (Fig 18-2).
• Premature suture closure prevents perpendicular growth but allows parallel growth.
• This growth pattern, called Virchow’s law, results in clinically recognizable cranial bone deformations.

Question 6

(Craniosynostosis)

Types of abnormal head shapes in infants

Answer 6

Plagiocephaly
Brachycephaly
Scaphocephaly
Dolichocephaly
Kleeblattschädel

Question 7

(Craniosynostosis)

Normal sutures and fontanelles of the fetal skull

Question 8

(Craniosynostosis)

Que signifie Plagiocephaly en Grec?

Answer 8

Plagiocephaly (Greek, plagio, “oblique”; kephale, “head”)

Question 9

(Craniosynostosis)

Causes de Plagiocephaly

Answer 9

• Most often plagiocephaly (Greek, plagio, “oblique”; kephale, “head”) is deformational, the consequence of external compressive forces, occurring prenatally or during infancy.
• Deformational plagiocephaly due to** intrauterine constraint** (eg, oligohydramnios) is characterized by ipsilateral occipital flattening with contralateral forehead flattening.
• This condition may also be caused by unilateral coronal suture synostosis.

Question 10

(Craniosynostosis)

Décrire le Deformational plagiocephaly due to intrauterine constraint

Answer 10

Deformational plagiocephaly due to intrauterine constraint (eg, oligohydramnios) is characterized by ipsilateral occipital flattening with contralateral forehead flattening.

Question 11

(Craniosynostosis)

Décrire le unilateral coronal suture synostosis

Answer 11

On the synostotic side,
* the forehead and supraorbital rim are retruded (depressed),
* the interpalpebral fissure is wider
* the orbit is often higher than on the nonsynostotic side

The nonsynostotic side displays
* a protruding or bulging forehead
* a lower supraorbital rim
* a narrower interpalpebral fissure
* frequently a lower orbital position

Question 12

(Craniosynostosis)

Que signifie Brachycephaly? Définition

Answer 12

Brachycephaly (literally, “short head”) is frequently the result of bilateral closure of the coronal sutures.
Limited growth along the anterior- posterior axis results in a comparatively short head.

Question 13

(Craniosynostosis)

À quoi ressemble le forehead d’une Brachycephaly?

Answer 13

Most often, the forehead is wide and flat.

Question 14

(Craniosynostosis)

Que signifie Scaphocephaly?

Answer 14

Scaphocephaly (literally, “boat head”) is usually a result of premature closure of the sagittal suture.

Question 15

(Craniosynostosis)

Quelle suture est fermée prématurément dans la Scaphocephaly?

Answer 15

Scaphocephaly (literally, “boat head”) is usually a result of premature closure of the sagittal suture.

Question 16

(Craniosynostosis)

À quoi ressemble la déformation dans la Scaphocephaly ?

Answer 16

There is anteroposterior elongation of the skull, along with bitemporal narrowing.

Question 17

(Craniosynostosis)

Que signifie Dolichocephaly?

Answer 17

In patients with dolichocephaly (literally, “long head”), the skull shape is similar to that in scaphocephaly.

Question 18

(Craniosynostosis)

Sutures impliquées dans le Kleeblattschädel

Answer 18

Kleeblattschädel (“cloverleaf skull”) is typically the result of synostosis of the coronal, lambdoidal, and sagittal sutures.
The skull shape is trilobar (trilobée).

Question 19

(Craniosynostosis)

Que signifie Kleeblattschädel

Answer 19

Cloverleaf skull
The skull shape is trilobar (trilobée).

Question 20

Étiologies des Craniosynostosis :
* Sporadique?
* AD?
* AR?
* Mitochondriale?

Answer 20

• Early suture fusion can be sporadic and occur as an isolated abnormality (eg, sagittal suture synostosis and most cases of unilateral coronal suture synostosis), or it can be part of a genetic syndrome, associated with other abnormalities.
• Craniosynostosis syndromes are usually autosomal dominant conditions, often with associated limb abnormalities.
• Many of these syndromes have overlapping features, making accurate diagnosis based on clinical findings difficult.
• Identification of specific mutations may be diagnostic.
• Mutations in the fibroblast growth factor receptor genes (FGFRs) or in the TWIST gene are found in most patients with syndromic craniosynostosis.

Question 21

Mutations génétiques associées avec des syndromic craniosynostosis

Answer 21

Mutations in the fibroblast growth factor receptor genes (FGFRs) or in the TWIST gene are found in most patients with syndromic craniosynostosis.

Question 22

Quelles fusions de sutures indiquent généralement plus une anomalie isolée > syndrome génétique ?

Answer 22

Sagittal suture synostosis
Unilateral coronal suture synostosis

Question 23

Dans quel syndrome de craniosynostose il n’y a pas de syndactylie et de brachydactylie ?

Answer 23

Crouzon syndrome

Question 24

Quels sont les 4 syndromes de craniosynostose autosomal dominant les plus communs ?

Answer 24

Crouzon syndrome (le plus commun)
Apert syndrome
Pfeiffer syndrome
Saethre-Chotzen syndrome

Question 25

Most common craniosynostosis syndrome

Answer 25

Crouzon syndrome is the most common craniosynostosis syndrome.

Question 26

(Crouzon syndrome)

Quelles sutures sont atteintes dans le syndrome de Crouzon ?

Answer 26

Calvarial bone synostosis often includes both coronal sutures, resulting in a broad, retruded forehead; brachycephaly; and a tower- shaped skull.
The skull base sutures are also involved, leading to varying degrees of midfacial retrusion.

Question 27

(Crouzon syndrome)

Caractéristiques cliniques des patients atteints du syndrome de Crouzon (forme de la tête/visage, yeux, cerveau) ?

Answer 27

Tête : broad, retruded forehead; brachycephaly; a tower- shaped skull; midfacial retrusion
Yeux : Hypertelorism and proptosis, with inferior scleral show, are the most frequent features
Cerveau : Hydrocephalus is common, but intelligence is usually normal

Typically, findings are limited to the head. Unlike in the other syndromes, patients with Crouzon syndrome do not have anomalies of the hands and feet; thus, the presence or absence of these anomalies in a patient can aid diagnosis.

Question 28

(Crouzon syndrome)

Most frequent features in Crouzon syndrome

Answer 28

Hypertelorism and proptosis, with inferior scleral show, are the most frequent features

Question 29

(Crouzon syndrome)

Intelligence/DI des enfants avec Crouzon syndrome?

Answer 29

Hydrocephalus is common, but intelligence is usually normal.

Question 30

(Crouzon syndrome)

V ou F : Typically, findings are limited to the head in Crouzon syndrome

Answer 30

Typically, findings are limited to the head.
Unlike in the other syndromes, patients with Crouzon syndrome do not have anomalies of the hands and feet; thus, the presence or absence of these anomalies in a patient can aid diagnosis.

Question 31

(Apert syndrome)

Quelles sutures sont fusionnées dans le syndrome d’Apert ?

Answer 31

Fusion of multiple calvarial sutures, most often both coronal sutures, and skull base suture fusion are usually found in patients with Apert syndrome.

Question 32

(Apert syndrome)

Qu’est-ce qui distingue le syndrome d’Apert vs Crouzon ? (x2)

Answer 32

• The skull shape and facial features of these patients resemble those of Crouzon patients but is associated with an often extreme amount of syndactyly, in which most or all digits of the hands and feet are completely fused (mitten deformity).
• Hydrocephalus is less common in this syndrome than in Crouzon syndrome but **mental deficiency **is likely to occur

Question 33

(Apert syndrome)

V ou F : on peut retrouver des anomalies d’organes internes dans le syndrome d’Apert

Answer 33

True : Likely to be associated with internal organ (cardiovascular and genitourinary) malformations

Question 34

(Apert syndrome)

Malformations des organes internes souvent associées avec le Alpert Syndrome?

Answer 34

Cardiovascular and Genitourinary malformations

Question 35

(Pfeiffer syndrome)

Quelle est la forme de la tête des patients atteint du syndrome de Pfeiffer?

Answer 35

Cloverlead skull.
* Patients with Pfeiffer syndrome have craniofacial abnormalities resembling those of Apert patients but often have more severe craniosynostosis, resulting in a cloverleaf skull.

Question 36

Quelles caractéristiques cliniques peut nous aider à différencier syndrome Pfeiffer vs Apert ?

Answer 36

• Craniosynostose plus sévère
• High risk of hydrocephalus
• Syndactyly less severe
• Characteristic short, broad thumbs and toes

Question 37

(Saethre- Chotzen syndrome)

V ou F : une fusion précoce des sutures n’est pas toujours présente dans le syndrome de Saethre-Chotzen ?

Answer 37

Vrai

Question 38

(Saethre- Chotzen syndrome)

Quelle suture est atteinte dans le syndrome de Saethre-Chotzen ?

Answer 38

Early suture fusion is not a constant feature but, when present, typically involves 1 coronal suture (plagiocephaly), resulting in facial asymmetry.

Question 39

(Saethre- Chotzen syndrome)

En plus de la plagiocéphalie, quels sont les autres signes cliniques retrouvés dans le syndrome de Saethre-Chotzen ?

Answer 39

Other common features are
* Ptosis
* Low hairline
* Ear abnormalities.

Abnormalities of the hands and feet include
* Brachydactyly
* Mild syndactyly

Intelligence is usually normal.

Question 40

(Saethre- Chotzen syndrome)

Comment est l’intelligence dans le syndrome de Saethre-Chotzen ?

Answer 40

Intelligence is usually normal.

Question 41

(Ocular complications of craniosynostosis)

Pathologie de la cornée associée aux craniosynostoses? Et pourquoi?

Answer 41

Because the eyelids may not close completely over the proptotic globes, corneal exposure may occur, with possible development of exposure keratitis.

Traitement :
* Aggressive lubrication may be necessary to prevent corneal drying.
* Tarsorrhaphy can reduce the exposure.
* Surgically expanding the orbital volume, thereby eliminating the proptosis, may be indicated in extreme cases.

Question 41

(Ocular complications of craniosynostosis)

Quelle est la cause de la proptose dans les craniosynostoses?

Answer 41

Proptosis (or exorbitism) results from the reduced volume of the bony orbit.

Question 41

(Ocular complications of craniosynostosis)

V ou F (et pourquoi?) : The severity of the proptosis decreases with age.

Answer 41

The severity of the proptosis in patients with craniosynostosis is not uniform and frequently increases with age because of the impaired growth of the bony orbit.

Question 42

(Ocular complications of craniosynostosis)

What complication can occurs in patients with craniosynostosis when eyelids are manipulated or when there is increased pressure in the orbits, such as occurs with a Valsalva maneuver?

Answer 42

**Globe luxation **

• In patients with extremely shallow orbits, globe luxation may occur when the eyelids are manipulated or when there is increased pressure in the orbits, such as occurs with a Valsalva maneuver.
• The globe is luxated forward, the eyelids closing behind the equator of the globe.

Question 43

(Ocular complications of craniosynostosis)

Est-ce que la luxation du globe est :
* Douloureuse ou Asx?
* Bénigne ou urgence médicale?

Answer 43

• The condition is very painful and can cause corneal exposure.
• It may also compromise the blood supply to the globe, which is a medical emergency.
• Physicians and patients (or their caregivers) should quickly reposition the globe behind the eyelids.

Question 44

(Ocular complications of craniosynostosis)

Best technique for reposition of a globe luxation

Answer 44

The best technique for doing this is to place a finger and thumb over the conjunctiva within the interpalpebral fissure and exert gentle but firm pressure; this technique does not damage the cornea.

Question 45

(Ocular complications of craniosynostosis)

Tx pour prévenir récurrence luxation globe (short-term et long-term)

Answer 45

For recurrent luxation,
* The short- term solution is tarsorrhaphy
* The long- term solution is orbital volume expansion.

Question 46

(Ocular complications of craniosynostosis)

Types de strabisme le plus souvent associé aux craniosynostoses

Answer 46

• Patients with craniosynostosis show a variety of horizontal deviations in primary position; exotropia is the most frequent.
• The most consistent finding, however, is a marked V pattern.

Question 47

(Ocular complications of craniosynostosis)

Qu’est-ce qui accompagne souvent le V pattern dans les craniosynostoses?

Answer 47

This V pattern is often accompanied by a marked overelevation in adduction, especially when 1 or both coronal sutures are fused (as occurs in unilateral coronal suture synostosis and Apert and Crouzon syndromes).

Bref : apparent overaction (often pseudo-overaction) of the inferior oblique muscle on the side of the coronal suture fusion

Question 48

(Ocular complications of craniosynostosis)

Cause d’un apparent overaction (often pseudo-overaction) of the inferior oblique muscle on the side of the coronal suture fusion avec un V pattern?

Answer 48

The apparent overaction (often pseudo-overaction) of the inferior oblique muscle on the side of the coronal suture fusion may be due to one of the following:
* Orbital and globe extorsion, which converts the medial rectus muscle into an elevator when the eye is in adduction;
* Superior oblique trochlear retrusion ( because of superior orbital rim retrusion), which induces superior oblique underaction and secondary true inferior oblique overaction
* Anomalous extraocular muscle insertions or agenesis;
* Orbital pulley abnormalities.

Question 49

(Ocular complications of craniosynostosis)

Causes d’un optic nerve damage chez les patients avec craniosynostose

Answer 49

• Optic nerve function may deteriorate in patients with chronically elevated intracranial pressure (ICP), which may result from hydrocephalus or be caused by crowding of the intracranial contents due to synostosis.
• In patients with midfacial retrusion, sleep apnea may develop and can cause idiopathic intracranial hypertension.
• In rare cases, optic nerve damage can occur secondary to compression stemming from synostosis of the optic foramina (synostose du foramen optique comprimant le NO)

Question 50

(Ocular complications of craniosynostosis)

Concernant les optic nerve abnormalities :
* Atrophie du NO avec ou sans ATCD papilloedème?
* Sx associés à l’HTIC?

Answer 50

• Optic atrophy may occur with or without antecedent papilledema.
• Because children with elevated ICP may not report headache, a common symptom of this condition, young patients with multiple fused sutures should be monitored for this complication.

Question 51

(Ocular complications of craniosynostosis)

Common ocular adnexal abnormalities associées aux craniosynostoses?

Answer 51

Common ocular adnexal abnormalities include orbital
* Hypertelorism
* Telecanthus
* Abnormal slant of the palpebral fissures secondary to superior displacement of the medial canthi
* Ptosis
* Nasolacrimal abnormalities

Question 52

(Ocular complications of craniosynostosis)

Epiphora is common in patients with craniosynostosis. What are the causes?

Answer 52

Epiphora is common and may be secondary to
* Nasolacrimal duct obstruction
* Poor blink secondary to proptosis
* Obliquity of the palpebral fissures
* Ocular irritation from corneal exposure

Question 53

(Nonsynostotic Craniofacial Conditions)

Most severe and rare phenotypic expression of a spectrum of abnormalities that includes typical coloboma and microphthalmia

Answer 53

Anophthalmia (anophthalmos), the absence of tissues of the eye, is the most severe and rare phenotypic expression of a spectrum of abnormalities that includes typical coloboma and microphthalmia.

Question 54

(Nonsynostotic Craniofacial Conditions)

A mother brings in her 3-year-old child with the finding seen in the photo above. She states that it was present at birth and has not grown much since.

Qu’est-ce que la lésion? À quelle syndrome est-elle associée? Quelles sont les atteintes systémiques associées?

Answer 54