Transcript Beals syndrom

Team B
Dr.Osama Mudhafar
Pediatric
History :
Saad is a 9 month old , Saudi boy , He was
admitted through the ER with history of
coughing , S.O.B. and cyanosis . There
was no history of fever , diarrhea , or
constipation . No history of contact with
patient with URTI.
Cont..
He is known to have :
Beals syndrom.
chronic lung disease with recurrent chest
infections.
Past medical history :
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He is a product of FT , SVD ,born in MCH hospital with
Bwt 2.9 kg , he was discharged with the mother in good
general condition .
At 40 days of life , he was admitted in our PMW with
history of cough , S.O.B. and cyanosis . Then he was
transferred to PICU for 28 days , intubated for 14 days
and diagnosed as bronchiolitis . At 4 moths of age , he
was admitted with a history of the same problem . Also
at 5 months of age , he was admitted through the ER to
PMW with chest infection .This admission he was
admitted PICU but not intubated .
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Past surgical history : negative
Vaccination : up to date
Nutrition : on bottle feeding
Developmental : he is 9 month and supporting head ,
and set with support and can roll on the bed and cannot
set without support . He can hear and see normally .
Review of system : unremarkable .
Blood transfusion : he received PRBCs in first
admission.
Social history : they live in Jeddah , Kilo 3 , his father
works in the airport and the mother is a housewife .
Family history : There is no consanguinity , he is the
first and the only child in the family .no family history of
the same problem . There is FH of bronchial asthma .
Physical Examination :
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General : he is conscious , alert and active . He looks
dysmorphic with large ears , depressed nasal bridge ,
micrognathia , high arched palate , short neck , long and
cylindrical fingers and toes .
Vitally : stable , on 0.5 L O2 saturation is 95 % .
Chest : intercostal ,subcostal and suprasternal
recession , AE bilaterally and minimal crepitation .
CVS : S1 + S2 + 0
Abdomen : soft , lax , liver is 2 cm BCM and no
splenomegally .
CNS :  tone , normal reflexes and power .
Extremities : long limbs , fingers and toes . Joint
contractures especially in the knee and elbow joints ,
Ophthalmology : ? Irido coloboma , normal ocular
movement , no lens sublaxation .
Investigations : general :
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CBC : last WBC 18.6 Hb 11.4 Plt 509
U&E : normal .
Ca , 2.38 PO4 2.8 ALP 40 Mg 0.88
Partial septic screen : -ve
CXR : emphysematous changes
CT chest : narrowing of the main bronchi ,
emphysematous changes.
Sweat chloride test : 34 mEq
Investigations : specific :
Chromosomal analysis :has been done
but the results are not in our hand
 Echo : mild TR and PFO , normal
ventricular function and size .
 CT angio :
-aortic root measures 22.5 mm in transverse diameter ( needs expert
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evaluation to decide aortic dilatation or not )
-ascending aorta measures 14.5 mm
-descending, thoracic and abdominal aorta no evidence of dilatation .
MRI brain : normal study .
 EEG : normal study .
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Beals Syndrome
Team B
Dr.Osama Mudhafar
Pediatric medical Intern.
Names :
Beals syndrome
 Beals-Hecht syndrome; first described by Beals and
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Hecht in 1971
Congenital contractural arachnodactyly,
(CCA);
 Arthrogryposis, distal, type 9.
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Definition:
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Congenital contractural arachnodactyly (CCA;
Beals syndrome) is an autosomal dominantly
inherited connective tissue disorder that
shares phenotypical features with Marfan
syndrome (MFS). Beals syndrome has distinct
features however, and is caused by a mutation
in the fibrillin-2 gene (FBN2) in 5q23, while
Marfan syndrome is caused by mutations in
fibrillin-1
Epidemiology
The incidence of Beals $ is unknown
 Prevalence is difficult to estimate
considering the overlap in phenotype with
Marfan $.
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Etiology
Beals $ is an autosomal dominantly
inherited single gene disorder .
 caused by a mutation in FBN2 gene on
chromosome 5q23 .
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Dysmorphic Terms :
Camptodactyly : is permanent
contraction in the joints .
 Arachnodactyly : is long webbed fingers
or toes ( spider like )
 Dolichostenomelia : the limbs are
disproportionally long compared with the
trunk .
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Clinical Description
at birth with clenched position of hands
(fist-like),
 their ears having a crumpled irregular
superior helix and prominent antihelix and
root of helix . (may become milder with age)
 fingers are long and there is elongation of
phalanges on X-rays. (Arachnodactyly)
 Pectus carinatum
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Clinical Description ( cont..)
Striae.
 highly arched palate
 Contractures of varying degrees at birth
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mainly involving the large joints, are present in all
affected children. Elbows, knees and fingers are most
commonly involved. The contractures may be mild and
tend to reduce in severity, but residual camptodactyly
always remains present .
Clinical Description ( cont..)
cardiovascular involvement ( CHD , Mitral
valve prolapse ,aortic arch dilation )
 Ophthalmologic abnormalities (heterotopia,
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Ectopia lentis is very rare. blue sclerae and
glaucomatous optic disc cupping, and partial coloboma
of the lens, mild cataract, abnormal cilliary body and
glaucoma were reported )
Clinical Description ( cont..)
mentally normal
 Delay in the motor development is
common (due to contractures )
 Dislocation of joints, especially patellae
 scoliosis and sometimes kyphoscoliosis
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Lethal form of Beals $ :
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A single report described a mother and
daughter with classic and severe lethal
Beals .
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cardiac abnormalities as septal defects,
interrupted aortic arch
single umbilical artery
duodenal atresia, esophageal atresia, and
intestinal malrotation
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Differential diagnosis:
Beals $
Muta. FBN 2 chrom 5q23
Marfan $
FBN 1 chrom 15q21
share Marfanoid habitus , arachnodactyly ,
camptodactyly , dolichostenomelia ,
scoliosis and kyphoscoliosis .
knee dislocations , high arched palate ,
they also overlap in ( CVS , ophth ,
respiratory,joints..) features .
Respir Pectus carinatum or exavatum
Spont. Pneumothorax
Dura
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Dural ectasia(dilat.)
CVS
MR
Aortic dilat.(<2SD)
M prolapse, AR
Aortic dilat(>2SD)
Aortic dissection
Dysrhythmia
Joints Contracturs and hyperlaxity .
ophth Partial coloboma ,
mild
glucoma&cataract
Micrognathia ,
crumbled ears.
Lens dislocation ,
retinal detachment ,
ectopia lentis
Why Beals and Marfan shares
clinical features ?
The overlap in clinical features has a
molecular basis.
Beals and MFS result from mutations in two
homologous genes, FBN2 and FBN1,
which are highly similar but distinct genes
situated in 5q23-31 and 15q15-21.3
chromosome, respectively
Beals Vs Marfan
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Now it is proven that the original patient
first described by Dr. Antoine Marfan in
1898 has been stated to have Beals,
rather than MFS !!!
Is there a relationship between
Beals & Respiratory diseases ?
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The answer will be in part II
Management :
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Is symptomatic
For contractures: physiotherapy and/or surgery .
For CHD : echo, CT angio and F/U
Ophthalmologic evaluation is recommended
Genetic counseling is recommended
There is no evidence of shortened lifespan.
Individuals with Beals are to live normal lives unless complicated
with cardiac problems or severe deformity of the vertebrae..
Antenatal diagnosis
Molecular antenatal diagnosis: is
possible if indicated and desired by the
parents after appropriate genetic
counseling.
 Ultrasound imaging: may be used to
demonstrate joint contractures and
hypokinesia in suspected cases.
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Thank You….