Cloverleaf Skull Syndrome

7/21/2019 Cloverleaf Skull Syndrome

http://slidepdf.com/reader/full/cloverleaf-skull-syndrome 1/75

A baby with cloverleaf A baby with cloverleaf

skull anomalyskull anomalyR 3R 3 羅永邦羅永邦

Supervisors: Drs.Supervisors: Drs. 許瓊心許瓊心 ,, 林炫沛

林炫沛 && 邱南昌邱南昌



Admission Data Admission Data

ame:ame: 黃黃 !!!! 之女之女 ""張張 !!#!!#

umber: 3$%'()*$umber: 3$%'()*$

Se!: +emaleSe!: +emale Admission Date: -)-3 Admission Date: -)-3 /hief complaints:/hief complaints:

%. 0rematurity "1A: 3' weeks#%. 0rematurity "1A: 3' weeks# '. Respiratory distress'. Respiratory distress

3. /on2enital anomaly3. /on2enital anomaly



0resent llness0resent llness

0erinatal e!aminations at 45S-16 /linic did0erinatal e!aminations at 45S-16 /linic didnot show any abnormality.not show any abnormality.

7other was also denied of perinatal dru2 usa2e,7other was also denied of perinatal dru2 usa2e,infection or systemic disease.infection or systemic disease.

0R47 was noted since )-%' and tocolysis0R47 was noted since )-%' and tocolysis

performed since )-%' at 45S-16 /linic.performed since )-%' at 45S-16 /linic. Ampicillin 8! from )-%' and ' doses of Decadron Ampicillin 8! from )-%' and ' doses of Decadronwere 2iven.were 2iven.




Due to fetal distress "9R: *-min#,Due to fetal distress "9R: *-min#,emer2ency /-S was performed.emer2ency /-S was performed.

8he Ap2ar score (8he Ap2ar score (%% ))..

After birth, bradycardia was noted and After birth, bradycardia was noted andendotracheal tube was inserted. ;nder theendotracheal tube was inserted. ;nder thedia2nosis of 00R47, prematurity anddia2nosis of 00R47, prematurity andrespiratory distress, she was admitted forrespiratory distress, she was admitted for

further treatment and evaluation.further treatment and evaluation.




5irth history:5irth history:

D45 on -)-3 at '':'$D45 on -)-3 at '':'$

<D/: -(-'<D/: -(-'

1A: 3'1A: 3'== weeks, 55>: %,%2mweeks, 55>: %,%2m

?ia /-S due to fetal distress?ia /-S due to fetal distress

Ap2ar score: ( Ap2ar score: (%%))

00R47 noted since )-%'00R47 noted since )-%' 0renatal ampicillin since )-%'0renatal ampicillin since )-%'

0renatal steroid !' doses0renatal steroid !' doses




7aternal history7aternal history

1%0% healthy mother 1%0% healthy mother

o 1D7, 98, 8o!emia, A09, 009o 1D7, 98, 8o!emia, A09, 009 ;R"*#, +ever"*#;R"*#, +ever"*#

95sA2"*#, 95eA2"*#95sA2"*#, 95eA2"*#



+amily 9istory+amily 9istory

' years old

51: A5

電子業

3 years old

51: A5

電子業



0hysical <!amination0hysical <!amination

5lood pressure: )$-3(5lood pressure: )$-3(-'-'DopamineDopamine

usedused)-3$)-3$

9eart rate: %%$ -min9eart rate: %%$ -min Respiratory rate: $ -minRespiratory rate: $ -min

5ody temperature: 3$.3/5ody temperature: 3$.3/

1eneral appearance: acute ill lookin21eneral appearance: acute ill lookin2




9ead: /loverleaf skull

+rontal bone bossin2

Anterior fontanel:

(.) ! .)cm

7id*face hypoplasia

<yes: not in@ected<ar: suspect ear canal

obstruction

ose: suspect left canal

4bstruction

7outh: no cleft palate




+rontal area bossin2

0seudo low set ears

<!ophthalmos




8hora!: symmetric e!pansion

no pi2eon chest

/hest: breathin2 sound: coarse

o rale, no wheein29eart: R95, no murmur or thrill

Abdomen: Soft and flat

5owel sound: normactive

o hepatosplenome2aly

<!tremities: free movable

o shortened limbsRectum and anus: patent



Baboratory Data ")-3#Baboratory Data ")-3#

/5//5/

92b: %(. 2-dB, 9ct: )3.$C, 7/?: %%$.)92b: %(. 2-dB, 9ct: )3.$C, 7/?: %%$.)

>5/: ,$ -uB, 0B8: 3',-uB, 51: 5>5/: ,$ -uB, 0B8: 3',-uB, 51: 5

5and: C, eut: '3C, <osin: 'C, 5aso: %C5and: C, eut: '3C, <osin: 'C, 5aso: %C5aso: %C, 7onocyte: %C, Bym: ('C5aso: %C, 7onocyte: %C, Bym: ('C

Atypical lymphocyte: %C Atypical lymphocyte: %C

/hemistry/hemistryDe!: 3 m2-dlDe!: 3 m2-dl, a: %) m<-B, a: %) m<-B

E: . m<-dl, +ree /a: %.% mmol-BE: . m<-dl, +ree /a: %.% mmol-B

Arterial Arterial5lood 1as5lood 1as

09: (.33', 0a/4': ). mm92, 0a4':09: (.33', 0a/4': ). mm92, 0a4':%'.%mm92, 9/43: '3. mmol-B%'.%mm92, 9/43: '3. mmol-B

5<: *'.% mmol-B5<: *'.% mmol-B




/S+/S+1lucose: 3 m2-dB, 0rotein: %( m2-dB1lucose: 3 m2-dB, 0rotein: %( m2-dBR5/: ) -/77, >5/: ' -/77R5/: ) -/77, >5/: ' -/77

B : F : 'B : F : '

血清病毒血清病毒

/R0: G.% m2-dB, R0R: non*reactive/R0: G.% m2-dB, R0R: non*reactive

;rine 15S: ne2ative;rine 15S: ne2ative

Rubella 27: .%' "G.#Rubella 27: .%' "G.#

9S?*% 27: .3 "G%#9S?*% 27: .3 "G%#

9S?*' 27: .)% "G%#9S?*' 27: .)% "G%#8o!oplasma 27: . "G.)#8o!oplasma 27: . "G.)#

/7? 27: . "G.)#/7? 27: . "G.)#

mmunemmune 8otal 27: m2-dB8otal 27: m2-dB




/HR ")-3#: 0arahilar/HR ")-3#: 0arahilar

radiatin2 con2estionradiatin2 con2estion

of both lun2s is seen.of both lun2s is seen.

Sli2ht overaeration ofSli2ht overaeration ofbilateral lun2s is seen.bilateral lun2s is seen.

o limbs or vertebraeo limbs or vertebrae

abnormalitiesabnormalities

70: Retention of lun270: Retention of lun2

fluid.fluid.



mpressionmpression

%. 0rematurity "1A: 3'= weeks, 55>: %% 2m#%. 0rematurity "1A: 3'= weeks, 55>: %% 2m#

'. 0R47 about % days'. 0R47 about % days

3. Respiratory distress, suspect RDS 2rade 3. Respiratory distress, suspect RDS 2rade

. 9ypotension. 9ypotension

). /on2enital anomaly). /on2enital anomaly

r-o /rouon syndromer-o /rouon syndrome

r-o 8hanatophoric dysplasiar-o 8hanatophoric dysplasia

r-o /raniosynostosisr-o /raniosynostosis



9ospital /ourse9ospital /ourse

nitial mana2ement:nitial mana2ement:

%. 4n <88 = 7?%. 4n <88 = 7?

'. -S challen2e first, then add Dopamine'. -S challen2e first, then add Dopamine")-3I)-3%#")-3I)-3%#

3. Ampicillin and 2entamicin ")-3I$-$#3. Ampicillin and 2entamicin ")-3I$-$#

for suspected con2enital infectionfor suspected con2enital infection




5rain echo ")-3%#: ?entricular dilatation, bilateralJ5rain echo ")-3%#: ?entricular dilatation, bilateralJsuspect pachy2yriasuspect pachy2yria

Renal echo ")-3%#: ne2ative findin2sRenal echo ")-3%#: ne2ative findin2s

Abdominal echo ")-3%#: 2all bladder is visibleJ no Abdominal echo ")-3%#: 2all bladder is visibleJ nointra*abdominal mass was notedintra*abdominal mass was noted

9eart echo ")-3%#: 0DA "left to ri2ht, .%$ cm#,9eart echo ")-3%#: 0DA "left to ri2ht, .%$ cm#,098 ")$.) mm92#, Dysarrhythmia098 ")$.) mm92#, Dysarrhythmia




9is respiratory distress improved, so9is respiratory distress improved, so

endotracheal tube was removed andendotracheal tube was removed and

chan2ed to 4' hood since $-%chan2ed to 4' hood since $-%

D/ 4' hood on $-(D/ 4' hood on $-(

/ulture/ulture 5lood culture ")-3#: no 2rowth5lood culture ")-3#: no 2rowth

/S+ culture ")-3#: no 2rowth/S+ culture ")-3#: no 2rowth/hromosome/hromosomestudystudy

$, HH, normal$, HH, normal



Skull 0A = BA8 view "$-%#Skull 0A = BA8 view "$-%#

4bliteration of bilateral coronal and4bliteration of bilateral coronal and

Bambdoidal sutures of skull is seenBambdoidal sutures of skull is seen..

0remature closure is considered.0remature closure is considered.

Association with Association with cloverleaf skull syndromecloverleaf skull syndrome is consideredis considered




/onsult 4phthalmolo2ist:/onsult 4phthalmolo2ist:

ncomplete re2ression of hyaloid vesselsJncomplete re2ression of hyaloid vesselsJ

?essels constriction of left eye?essels constriction of left eye

mpression:mpression:

%. /on2enital abnormality of retinal vessel "4S#%. /on2enital abnormality of retinal vessel "4S#

'. 4ptic neuropathy "4S#'. 4ptic neuropathy "4S#

Su22est ?<0 e!aminations after 2eneralSu22est ?<0 e!aminations after 2eneral

condition stabiliedcondition stabilied




Add aminophylline since $-' Add aminophylline since $-'

+-; brain echo "$-3#: ?entriculome2aly,+-; brain echo "$-3#: ?entriculome2aly,

bilateral, symmetricJ Suspect pachy2yriaJbilateral, symmetricJ Suspect pachy2yriaJ

9i2h R ".# 9i2h R ".#

Arran2e brain 7R with-without contrast Arran2e brain 7R with-without contrast

on $-3on $-3



94.6.3

Cavum septum

pellucidum

Cavum vergae

%. Dilatation of the lateral ventricles is noted, 8he 3rd

ventricle is mildly dilated. 0resence of cavum septum

pellucidum and cavum ver2ae is noted.

'. 8he cerebral cortical sulci is broad and flattened,

pachy2yria is considered.

3. 5rachicephaly is noted. 8rilobed skull is

demonstrated on coronal ima2es. /loverleaf skull

syndrome due to premature closure of multiple cranial

sutures is considered.

. 8he posterior portion of the septum pellucidum isnot visualied.



5rain 7R "$-3#5rain 7R "$-3#



%. 8he posterior fossa

s small and torcular is low

Byin2. 8onsillar herniation

8hru the foramen ma2num

s also noted.

'. o abnormal

enhancement is noted.

3. 8he pituitary 2land,

cavernous sinuses and

cerebellopontine an2les

appear normal and

symmetric.





5rain 7R "$-3#5rain 7R "$-3#


%. /loverleaf skull syndrome, followin2 anomalies%. /loverleaf skull syndrome, followin2 anomaliesincludin2 acrocephalopolysyndactylies "/rouon, 0feiffer,includin2 acrocephalopolysyndactylies "/rouon, 0feiffer,/arpenter, ApertKetc.# and type form of thanatophoric/arpenter, ApertKetc.# and type form of thanatophoric

dysplasia should be considered in the differentialdysplasia should be considered in the differentialdia2nosis.dia2nosis.

'. Dilatation of the lateral ventricles and presence of'. Dilatation of the lateral ventricles and presence ofcavum septum pellucidum and cavum ver2ae.cavum septum pellucidum and cavum ver2ae.

3. 0achy2yria.3. 0achy2yria. . Small posterior fossa and cerebellar tonsilar. Small posterior fossa and cerebellar tonsilar

herniation.herniation.

). Absent posterior septum pellucidum.). Absent posterior septum pellucidum.



5rain /8 "$-#5rain /8 "$-#

%. Dilatation of the lateral ventricles andmild dilatation of the 3rd ventricle are noted.

0resence of cavum septum pellucidum and

cavum ver2ae is noted.

'. 8he posterior septum pellucidum is not

visualied.



5rain /8 "$-#5rain /8 "$-#



5rain /8 "$-#5rain /8 "$-#



5rain /8 "$-#5rain /8 "$-#

%. 0remature closure of multiple cranial sutures

causin2 trilobed appearance of skull on coronal

ima2es and brachicephaly is seen, cloverleaf skull

syndrome is considered. 5eaten copper

appearance of the skull is also noted.

'. <nlar2ement of the fontanelles is noted.



5rain /8 "$-#5rain /8 "$-#


%. /loverleaf skull syndrome.%. /loverleaf skull syndrome.

'. Dilatation of the lateral ventricles and'. Dilatation of the lateral ventricles andmild dilatation of the 3rd ventricle andmild dilatation of the 3rd ventricle and

presence of cavum septum pellucidumpresence of cavum septum pellucidum

and cavum ver2ae.and cavum ver2ae.

3. Absent posterior septum pellucidum.3. Absent posterior septum pellucidum.




+reuent bradycardia "(I-min#, apnea+reuent bradycardia "(I-min#, apnea andanddesaturation "(IC# noted on $-%)desaturation "(IC# noted on $-%)

o fever, no hypotensiono fever, no hypotension 9ead circumference increased from9ead circumference increased from

'(.) cm to ' cm'(.) cm to ' cm

5rain echo "$-%)#:5rain echo "$-%)#:

0ro2ressin2 ventriculome2aly, bilateral0ro2ressin2 ventriculome2aly, bilateral

9ydrocephalus, non*communicatin2 type9ydrocephalus, non*communicatin2 type 0achy2yria, suspect lissencephaly0achy2yria, suspect lissencephaly

9i2h R "%.#9i2h R "%.#




/0 was hi2hly suspected, so /S+ tappin2 was/0 was hi2hly suspected, so /S+ tappin2 wasperformed, however, reddish /S+ fluid was notedperformed, however, reddish /S+ fluid was noted

Bab data "%# Bab data "%# Bab data "'#Bab data "'# /HR/HR 5rain /8 "$-%)#:5rain /8 "$-%)#:

%. /loverleaf skull syndrome.%. /loverleaf skull syndrome.

'. Dilatation of the lateral ventricles and mild dilatation of'. Dilatation of the lateral ventricles and mild dilatation of

the 3rd ventricle and presence of cavum septumthe 3rd ventricle and presence of cavum septumpellucidum and cavum ver2ae.pellucidum and cavum ver2ae.

3. Absent posterior septum pellucidum.3. Absent posterior septum pellucidum.




/onsult eurosur2eon immediately/onsult eurosur2eon immediately

<!traventricular device was inserted on $-%),<!traventricular device was inserted on $-%),

then /efameine for post*operation prophyla!isthen /efameine for post*operation prophyla!is

"$-%$I$-%#"$-%$I$-%# 0R5/ was transfused after 400R5/ was transfused after 40

Buminal for preventin2 seiure "$-%)I#Buminal for preventin2 seiure "$-%)I#




9er bradycardia and desaturation improved a lot9er bradycardia and desaturation improved a lot

after operationafter operation

<?D dischar2e: %cc "$-%$#<?D dischar2e: %cc "$-%$#3(cc "$-%(#3(cc "$-%(#''.)cc "$-%#''.)cc "$-%#'cc "$-%#'cc "$-%#

5rain echo "$-%$#: 9ydrocephalus, -p ?*0 shuntJ5rain echo "$-%$#: 9ydrocephalus, -p ?*0 shuntJDecreased ventricle sie, bilateralDecreased ventricle sie, bilateral




;nfortunately, her;nfortunately, her +1+R3 2ene 0/R showed+1+R3 2ene 0/R showedpositive on $-%positive on $-%, so 8hanatophoric dysplasia, so 8hanatophoric dysplasiawas hi2hly suspectedwas hi2hly suspected

?ery poor pro2nosis was told, so her family?ery poor pro2nosis was told, so her familydecided to remove <?D shunt since thendecided to remove <?D shunt since then

After detailed e!planation of the conseuence of After detailed e!planation of the conseuence ofremovin2 <?D shunt to her family, her <?Dremovin2 <?D shunt to her family, her <?Dshunt was removed on $-'shunt was removed on $-'




9owever, further 2enetic study had ruled out the9owever, further 2enetic study had ruled out the

possibility of thanatophoric dysplasiapossibility of thanatophoric dysplasia

ewborn screen: normalewborn screen: normal

8andem mass: normal8andem mass: normal

Seuencin2 of +1+R3 2ene: normalSeuencin2 of +1+R3 2ene: normal

0/R study of +1+R' 2ene: pendin20/R study of +1+R' 2ene: pendin2




5rain echo "$-3#:

%. 0ro2ressive bilateral ventricle dilatation

'. Suspect blood clot inside the ventricle, bilateral

3. 0orencephaly at ri2ht fronto*parietal area, due to <?D

. 9i2h R ".(#

5rain echo "(-$#:

%. 9ydrocephalus, non*communicatin2 type, pro2ressin2

'. 0orencephaly at ri2ht fronto*parietal area, pro2ressin23. 9i2h R "%.#



9ospital /ourse "(-(#9ospital /ourse "(-(#



9ospital /ourse "(-(#9ospital /ourse "(-(#

At this point, she At this point, she

would 2et bradycardiawould 2et bradycardia

easily if you press oneasily if you press on

her anterior fontanelher anterior fontanel2ently2ently



9ospital /ourse "(-%)#9ospital /ourse "(-%)#





DiscussionDiscussion

%.%. /raniosynostosis/raniosynostosis

'.'. /loverleaf skull syndrome/loverleaf skull syndrome



/raniosynostosis/raniosynostosis

Primary craniosynostosisPrimary craniosynostosis: a primary defect of: a primary defect of

ossificationossification

Secondary craniosynostosisSecondary craniosynostosis: a failure of brain: a failure of brain

growth, more commonlygrowth, more commonly

Syndromic craniosynostosisSyndromic craniosynostosis: display other body: display other body

deformitiesdeformities




Simple craniosynostosisSimple craniosynostosis: only 1 suture fuses: only 1 suture fuses

prematurelyprematurely

Complex or compound craniosynostosisComplex or compound craniosynostosis::

premature fusion of multiple suturespremature fusion of multiple sutures




The coronal suture separates the 2The coronal suture separates the 2frontal bones from the parietal bones.frontal bones from the parietal bones.

The metopic suture separates theThe metopic suture separates thefrontal bones.frontal bones.

The sagittal suture separates the 2The sagittal suture separates the 2

parietal bones.parietal bones. The lambdoid suture separates theThe lambdoid suture separates the

occipital bone from the 2 parietaloccipital bone from the 2 parietalbones.bones.

The primary factor that eeps suturesThe primary factor that eeps sutures

open is ongoing brain growth.open is ongoing brain growth. !ormal sull growth occurs!ormal sull growth occurs

perpendicular to each suture.perpendicular to each suture.



Primary craniosynostosisPrimary craniosynostosis

"hen 1 or more sutures fuse prematurely, sull growth can"hen 1 or more sutures fuse prematurely, sull growth canbe restricted perpendicular to the suture. #f multiple suturesbe restricted perpendicular to the suture. #f multiple suturesfuse while the brain is still increasing in si$e,fuse while the brain is still increasing in si$e, intracranialintracranialpressurepressure can increase.can increase.

Cause: a primary defect in the mesenchymal layerCause: a primary defect in the mesenchymal layerossification in the cranial bones.ossification in the cranial bones.

% gene locus for single suture craniosynostosis has not% gene locus for single suture craniosynostosis has notbeen identified.been identified.



ScaphocephalyScaphocephaly * <arly fusion of the* <arly fusion of the sa2ittalsa2ittal suturesuture



Ant. pla2iocephaly Ant. pla2iocephaly * <arly fusion of %* <arly fusion of % coronal suturecoronal suture

0ost. pla2iocephaly0ost. pla2iocephaly * <arly closure of %* <arly closure of % lambdoid suturelambdoid suture



5rachycephaly5rachycephaly * <arly bilateral* <arly bilateral coronal suturecoronal suture fusionfusion



8ri2onocephaly8ri2onocephaly * <arly fusion of the* <arly fusion of the metopic suturemetopic suture



Secondary craniosynostosisSecondary craniosynostosis

&ore fre'uent&ore fre'uent

(arly fusion of sutures due to(arly fusion of sutures due to primary failure of brain growthprimary failure of brain growth

#ntracranial pressure usually is normal, and surgery seldom#ntracranial pressure usually is normal, and surgery seldom

is neededis needed #ntrauterine space constraints may play a role in the#ntrauterine space constraints may play a role in the

premature fusion of sutures in the fetal sull. This has beenpremature fusion of sutures in the fetal sull. This has beendemonstrated in coronal craniosynostosisdemonstrated in coronal craniosynostosis

&icrocephaly&icrocephaly usually suggests a secondaryusually suggests a secondarycraniosynostosiscraniosynostosis



Secondary craniosynostosisSecondary craniosynostosis

(ndocrine(ndocrine

)yperthyroidism, hypophosphatemia, *itamin + deficiency,)yperthyroidism, hypophosphatemia, *itamin + deficiency,renal osteodystrophy, hypercalcemia, and ricetsrenal osteodystrophy, hypercalcemia, and ricets

)ematologic disorders)ematologic disorders

"hich cause bone marrow hyperplasia eg, sicle cell"hich cause bone marrow hyperplasia eg, sicle celldisease, thalassemia-disease, thalassemia-

#nade'uate brain growth#nade'uate brain growth

&icrocephaly and its causes and shunted hydrocephalus&icrocephaly and its causes and shunted hydrocephalus



Syndromic /raniosynostosisSyndromic /raniosynostosis

Craniosynostosis sometimes is associated with sporadicCraniosynostosis sometimes is associated with sporadiccraniofacial syndromes such ascraniofacial syndromes such as Crou$on, %pert, Chot$en,Crou$on, %pert, Chot$en,Pfeiffer, or Carpenter syndromes.Pfeiffer, or Carpenter syndromes.

#n this context, facial features, typically#n this context, facial features, typically craniofacialcraniofacialabnormalities, suture ridging, and early closure ofabnormalities, suture ridging, and early closure offontanellesfontanelles, suggest the diagnosis., suggest the diagnosis.

enetic mutations responsible forenetic mutations responsible for fibroblast growth factorfibroblast growth factorreceptors 2 and /receptors 2 and /




#ncidence in the 0S:#ncidence in the 0S: . 3 .14. 3 .14

23542354 had primary craniosynostosis, others werehad primary craniosynostosis, others weresecondary craniosynostosissecondary craniosynostosis

Sagittal 67654Sagittal 67654, coronal 27284, metopic 714,, coronal 27284, metopic 714,and lambdoid 274.and lambdoid 274.




9aised intracranial pressure is rare with fusion of a single9aised intracranial pressure is rare with fusion of a single

suture. #t can occur in primary craniosynostosis whensuture. #t can occur in primary craniosynostosis when

multiple sutures fuse.multiple sutures fuse.

Signs include sun7setting eyes, papilledema, *omiting, andSigns include sun7setting eyes, papilledema, *omiting, and

lethargy.lethargy.

Craniosynostosis of 172 sutures: Cosmetic defect is theCraniosynostosis of 172 sutures: Cosmetic defect is the

primary morbidity.primary morbidity.



Dia2nosis of /raniosynostosisDia2nosis of /raniosynostosis

#mage studies:#mage studies:

1. Sull 7ray with %P, lat. and water *iew1. Sull 7ray with %P, lat. and water *iew

2. Cranial CT scan with /7dimensional2. Cranial CT scan with /7dimensionalreconstructionreconstruction

(ndocrine e*aluation: ;rder thyroid and parathyroid(ndocrine e*aluation: ;rder thyroid and parathyroidstudies when associated features suggest thesestudies when associated features suggest these

diagnoses.diagnoses.



8reatment of /raniosynostosis8reatment of /raniosynostosis

#n patients with microcephaly, in*estigate the cause#n patients with microcephaly, in*estigate the cause

Carefully monitor signs and symptoms of ele*atedCarefully monitor signs and symptoms of ele*ated

intracranial pressureintracranial pressure

Surgery typically is indicated for increasedSurgery typically is indicated for increasedintracranial pressure or for cosmetic reasons.intracranial pressure or for cosmetic reasons.



8reatment of /raniosynostosis8reatment of /raniosynostosis

+o not operate in patients without ##CP until+o not operate in patients without ##CP until thethe

shape of the head does not impro*e byshape of the head does not impro*e by age 27age 27

monthsmonths, then the abnormality is unliely to resol*e, then the abnormality is unliely to resol*e

with age with age

Cosmetic surgery is performed in infantsCosmetic surgery is performed in infants aged /7<aged /7<

monthsmonths in the author=s practicein the author=s practice



/loverleaf skull/loverleaf skull

syndromesyndrome



/loverleaf Skull Syndrome/loverleaf Skull Syndrome

>leeblattsch?del ie,>leeblattsch?del ie,

clo*erleaf sull-clo*erleaf sull- resultsresults

from fusion of all suturesfrom fusion of all sutures

except theexcept the metopic andmetopic ands'uamosal suturess'uamosal sutures, gi*ing, gi*ing

the head a clo*erleafthe head a clo*erleaf

appearanceappearance







Clo*erleaf sull or leeblattschadel is a rareClo*erleaf sull or leeblattschadel is a rare

malformation caused by synostosis of multiplemalformation caused by synostosis of multiple

cranial sutures.cranial sutures.

#t can be associated with#t can be associated with hydrocephalus, proptosis,hydrocephalus, proptosis,

and hypoplasia of the midface and cranial baseand hypoplasia of the midface and cranial base




&any syndrome present with clo*erleaf sull&any syndrome present with clo*erleaf sull

including most of the acrocephalopolysyndactyliesincluding most of the acrocephalopolysyndactylies

Crou$on, Pfeiffer, Carpenter, %pert@-Crou$on, Pfeiffer, Carpenter, %pert@-

#t is also typical of the type ## form of thanatophoric#t is also typical of the type ## form of thanatophoric

dysplasia another AA9 mutation-.dysplasia another AA9 mutation-.




Differential dia2nosisDifferential dia2nosis

%. /rouon syndrome%. /rouon syndrome

'. Apert syndrome'. Apert syndrome

3.3. Pfeiffer syndromePfeiffer syndrome

. Carpenter syndrome. Carpenter syndrome

6. Thanatophoric dysplasia type ##6. Thanatophoric dysplasia type ##



/rouon Syndrome/rouon Syndrome

Coronal and sagittalCoronal and sagittal

sutures are mostsutures are most

commonly in*ol*edcommonly in*ol*ed

Clo*erleaf sull is rare andClo*erleaf sull is rare andoccurs in the mostoccurs in the most

se*erely affectedse*erely affected

indi*iduals.indi*iduals.

)ydrocephalus)ydrocephalus

progressi*e in /4-progressi*e in /4-




7idface "ma!illary# hypoplasia

<!ophthalmos secondary to shallow orbits4cular hypertelorism

ose: 5eaked appearance

7outh: 7andibular pro2nathism

arrow, hi2h, or cleft palate and bifid uvula




;ther seletal features;ther seletal features Bloc fusions in*ol*ing multiple *ertebrae, Cer*ical fusion 154-,Bloc fusions in*ol*ing multiple *ertebrae, Cer*ical fusion 154-,

C27C/ and C67C<C27C/ and C67C< Subluxation of the radial heads , %nylosis of the elbowsSubluxation of the radial heads , %nylosis of the elbows

SinSin%pproximately 64 of patients ha*e%pproximately 64 of patients ha*e acanthosis nigricansacanthosis nigricans, which is, which isdetectable after infancy. The hallmar of these lesions is a dareneddetectable after infancy. The hallmar of these lesions is a darenedthicened sin with accentuated marings and a *el*ety feelthicened sin with accentuated marings and a *el*ety feel

Central ner*ous systemCentral ner*ous system %pproximately%pproximately /4 of patients ha*e chronic tonsillar herniation/4 of patients ha*e chronic tonsillar herniation..

;f these, 4 ha*e progressi*e hydrocephalus.;f these, 4 ha*e progressi*e hydrocephalus. Syringomyelia may be present.Syringomyelia may be present.



Apert Syndrome Apert Syndrome

Coronal sutures mostCoronal sutures most

commonly are in*ol*edcommonly are in*ol*ed

Darge late7closing fontanelsDarge late7closing fontanels

aping midline defectaping midline defect

9are clo*erleaf sull anomaly is9are clo*erleaf sull anomaly is

found in approximatelyfound in approximately 44 ofof

infantsinfants




<!tremities and di2its<!tremities and di2its SyndactylySyndactyly involves the hands andinvolves the hands and

feet with partial*to*complete fusionfeet with partial*to*complete fusion

of the di2itsof the di2its

;pper limbs;pper limbs are affected moreare affected more

severelyseverely

/entral nervous system/entral nervous system ntelli2ence varies fromntelli2ence varies from

normal to mental deficiencynormal to mental deficiency 0apilledema and optic0apilledema and optic

atrophy with loss of visionatrophy with loss of vision




SinSin )yperhidrosis common-)yperhidrosis common-

Cardio*ascular 14-Cardio*ascular 14- %S+, P+%, ES+, PS, ;*erriding aorta, Co%, +extrocardia, T;A, (ndocardial%S+, P+%, ES+, PS, ;*erriding aorta, Co%, +extrocardia, T;A, (ndocardial

fibroelastosisfibroelastosis

enitourinary 8.<4-enitourinary 8.<4- Polycystic idneys, +uplication of renal pel*is, etc..Polycystic idneys, +uplication of renal pel*is, etc..

astrointestinal 1.64-astrointestinal 1.64-

Pyloric stenosis, (sophageal atresia and tracheoesophageal fistula, etc..Pyloric stenosis, (sophageal atresia and tracheoesophageal fistula, etc..

9espiratory 1.64-9espiratory 1.64- %nomalous tracheal cartilage, Tracheoesophageal fistula, Pulmonary aplasia, %bsent%nomalous tracheal cartilage, Tracheoesophageal fistula, Pulmonary aplasia, %bsent

right middle lobe of lung, %bsent interlobular lung fissuresright middle lobe of lung, %bsent interlobular lung fissures



0feiffer Syndrome0feiffer Syndrome

Sull is prematurely fused andSull is prematurely fused and

unable to grow normallyunable to grow normally

Bulging wide7set eyes due toBulging wide7set eyes due to

shallow eye socets shallow eye socets occularoccular

proptosis) proptosis) 0nderde*elopment of the0nderde*elopment of the

midfacemidface

Broad, short thumbs and bigBroad, short thumbs and big

toestoes Possible webbing of the handsPossible webbing of the hands

and feetand feet



/arpenterLs Syndrome/arpenterLs Syndrome

Head and neck:Head and neck: /raniosynostosis/raniosynostosisfirst involvin2 thefirst involvin2 the sa2ittal andsa2ittal andlambdoidlambdoid sutures later e!tendin2sutures later e!tendin2to the coronal sutures. /loverleafto the coronal sutures. /loverleafskull may occur skull may occur

Ears:Ears: Bow set ears andBow set ears andpreauricular fistulae.preauricular fistulae.

Eyes:Eyes: 9ypertelorism, mildly9ypertelorism, mildlydownward slantin2 of the palpebraldownward slantin2 of the palpebralfissures, epicanthic folds,fissures, epicanthic folds,microcornea, corneal opacity, andmicrocornea, corneal opacity, and

optic atrophyoptic atrophy

Nose:Nose: +lat nasal brid2e.+lat nasal brid2e.

Mouth and oral structures:Mouth and oral structures: A Anarrow or hi2hly arched palate.narrow or hi2hly arched palate.

Hand and foot:Hand and foot: 8he fin2ers are8he fin2ers areshort and stubby with a2enesisshort and stubby with a2enesisof the middle phalan2es and softof the middle phalan2es and soft

tissuetissue syndactylysyndactyly, especially of, especially ofthe third and fourth fin2ers.the third and fourth fin2ers.

Cardiovascular system:Cardiovascular system: About Aboutone third of all casesone third of all cases

Growth and development:Growth and development: 1rowth retardation is a constant1rowth retardation is a constantfeaturefeature. 7ental retardation is. 7ental retardation iscommon but not constant.common but not constant.



8hanatophoric Dysplasia8hanatophoric Dysplasia

Severe 2rowth deficiency with anSevere 2rowth deficiency with anavera2e len2th of cm at termavera2e len2th of cm at term

A macrocephalic head with a frontal A macrocephalic head with a frontalbossin2, a flattened nasal brid2e,bossin2, a flattened nasal brid2e,and proptotic eyesand proptotic eyes

n 8D ', an 8D ', a cloverleaf*shaped skullcloverleaf*shaped skull resultin2 from premature closure ofresultin2 from premature closure ofthe cranial suturesthe cranial sutures

arrow thora! with small ribsarrow thora! with small ribs

7icromelic limbs with brachydactyly7icromelic limbs with brachydactyly

0rotuberant abdomen0rotuberant abdomen

9ydrocephalus and other cerebral9ydrocephalus and other cerebralparenchymal abnormalitiesparenchymal abnormalities




enetic anomalies: &ost are de no*o mutation of theAA917/.

ex: 1. Crou$on diseaseAA92

2. Thanatophoric dysplasia

AA9/

Prognosis: "hen associated with hydrocephalus theoutcome is usually poor with fre'uent death in infancy

Surgical management: relie*ing the intracranialhypertension and correcting the aesthetic appearance.

Documents

Cloverleaf Skull Syndrome