DYSMORPHISM
Abstract: A dysmorphic feature is a difference of body
structure. It can be an isolated finding in an otherwise normal individual, or
it can be related to a congenital disorder, genetic syndrome, or birth defect. . It is estimated that 10% of the pediatric hospital
admission involved known genetic conditions, 18% involved congenital defects of
unknown etiology and 40% of surgical admissions are of patients with congenital
malformations. Dysmorphology is the study of dysmorphic features, their origins and proper
nomenclature. Dysmorphic features can occur anywhere in the body but are
perhaps most often associated with facial features. As a routine part of patient assessment the
nurse should screen the major and minor anomalies. The minor anomalies such as clinodactyly or synophrys to severe congenital
anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger
clinical picture, sometimes known as asequence, syndrome or association.
About 2-3% of all children have a majot anomalies. The nurse have to identify
the clues to genretic problems by examining the child and considering the
physical characteristics of the parents and other family members.
Key words: Dysmorphism
Bell’s palsy, mocopolysaccharidosis, global developmental delay, Microcephaly
and Rickets.
Introduction
Baby
Diya a 3 years old female child was admitted in the pediatric ward , Rishikesh on 9/03/2016
under the consultant of Dr. Jondhale Sunil Nahta. In the OPD the child was suspected for Bell’s palsy with mucopoly
saccharidosis and microcephaly. The child was admitted in IPD for further
evaluation. Then the child was diagnosed to have dysmorphism under evaluation
for Bell’s palsy, rickets and mucopoly saccharidosis. The chief complains was left sided deviation
of mouth from 2 to 3 days and Inability to close left eye. Vitals are stable bur dysmorphic features are
found on head eyes, extrimities, skin, neck chest and abdomen. The child
underwent thyroid function test, X ray of the wrist, CBC, blood chemistry and
karyotyping. A stating dose of 10mg of wysolone tablet OD was given for 5 days.
History:
There are no congenital
abnormalities or chromosomal disorder in the family. No consanguineous marriage
between the parents. The child is second in birth order. Her elder sister is 4
years old and seems to be normal. Baby Diya was full tern normal delivery at
home with delayed crying at birth. The ABGAR score was not known. The birth
weight was not known. The baby required no hospitalization. Baby Diya suffering
from global developmental disorder at present.
Physical
examination:
v General
appearance: normal body built and Conscious.
v Skin:
persistent Mongolian spot.
v Head:
Microcephaly positive, prominent occiput, posterior fontanel was still open.
Large bulging head, prominent frontal bone. Over riding of sutures.
v Face:
coarse facies, left sided deviation of mouth while crying
v Nose:
depressed nasal bridge.
v Eyes:
hypertelorism. Sclera is pale
v Neck:
short neck
v Chest:
wide spaced nipple
v Abdomen: abdominal distention present and enlarged.
Liver palpable 4 cm
v Extremity:
contracture of fingers, short stubby finger. Rocker bottom feet. Wrist widening
. over riding of toes.
v Vital
signs: Temp: a febrile, Pulse:
70beats/minute, Repiration: 20 breaths/ minutes and BP: 120/80mm/hg
v Anthropementry:
·
Height: 72 cm
·
Weight: 8.2 kg.
·
Head circumference: 42.5 cm
·
Mid arm circumference: 16cm
·
Chest circumference: 50cm
·
Abdominal circumference: 52cm
Degree
of malnutrition: 58% third degree malnutrition according to Gomez
classification.
Growth
and development
|
Growth
and development
|
|
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Book picture
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Patient picture
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Physical Or
Biological Development
·
Weight : Approximately: 14 kg
· Height
:Approximately 85 to 95cm
· Pulse:
95 beats/mt
· Respiration
:25 + breaths /mts
· Blood
Pressure :100/67 + 24/25
Gross Motor
· Walks
a straight line.
· Walks
on tiptoes
· Runs
without looking at feet
· Catches
ball with extended arms.
· Kicks
a ball
· Jumps
from a height of several inches.
· Ride
tricycle using pedals turns wide corners.
Fine Motor
· Builds
a tower of 9-10 blocks
· Copies
a circle
· Shows preference for handedness
· Can
help with simple house hold task.
Self
Care
·
Can put on coat without assistance.
·
Can
Undress self most instances
·
Toileting and grooming skills.
· Can
pull pants up and down.
· Can
go to toilet alone
· Brushes
teeth with help.
Psychosocial
development :
· Beginning
development of sense of initiative.
· Ego
Centric
· Known
own sex
Psycho
Sexual Development :
· Phallic
Stage (3 – 6 Years)
Spiritual
development :
· Intuitive
– Projective faith.
Cognitive
development
Sub
stage - I :
· Pre-conceptual (2 – 4 Years) characterized by language acquisition
Moral Development
· Pre
Conventional Morality Stage 1 (2 - 3
Years)
Receptive
Language Development
· Can
obey two prepositional commands. (ie – On, Under)
|
·
8.2 kg
·
72cm
·
70b/m
·
20 breaths/m
·
120/80mm/hg
·
She was able to sit with support at 1
years.
·
Roll over at one year.
·
Not
able to stand without support
·
Able to hold the object in both hand
·
Completely Lacking
·
Not seen initiation
·
Still oral stage
·
Undifferentiated
·
Sensory stage
·
Egocentric
·
Can say bisyllable word (mama)
|
Disease
condition:
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Topic
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Book Picture
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Patient Picture
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Definition
|
A dysmorphism is an anatomical malformation have facial dysmorphism and
other structural abnormalities. It is a difference of body
structure. It can be an isolated finding in an
otherwise normal individual, or it can be related to a congenital
disorder, genetic syndrome, or birth
defect.
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Incidence:
|
Ø Major
congenital anomaly
·
At birth : 2-3%
·
At 5 years 4-6%
Ø Minor
congenital anomaly:
·
At birth 15 %
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·
Seen from newborn
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classification
|
·
Deformation (unusual mechanical
pressure during developmental period especially during last trimester)
·
Disruption ( abnormal cellular
organization)
·
Dysplasia ( affect structure that has
been undergone normal development and growth in utero)
·
Malformation (intrinsic abnormalities
of development in body structure during prenatal period)
|
·
Disruption
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Causes
|
·
Congenital disorder
·
Genetic syndrome
·
Birth defects
·
Teratogen exposure
·
Environmental
·
Twining
·
Unknown
·
Multifactorial
|
·
Rickets, Bell’s palsy
·
Mucopolysaccharidosis
·
Hypoxic ischemic encephalopathy
|
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Types
of anomalies
|
·
Minor (requires social and medical
implications, rarely requires surgical implication)
·
Major
(mostly cosmetic significance)
|
·
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Pathophysiology
|
·
Pathophysiology is not well understood
 Due to congenital, genetic and
birth defects
Development of
dysmorphic features
E.g for
cranisynostosis:
  Autosomal dominant gene mesanchymal blasmtoma   Hyperthyrosidm acelerated ossicious maturation craniosynostosis  Microcephaly lack of growth stretch across sutures |
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Clinical
feature
|
Head:
·
Asymmetric head
·
Fontanel too large or small
·
Microcephaly
·
Prominent or flat occiput
·
Craniosynostosis
·
Micrognathia (small jaw)
Ears:
·
Ear tags
·
Posteriorly rotated
·
Hearing loss
·
Low set or malformed ears
Eyes:
·
Blue sclera
·
Up or Down slanting eyes
·
Extreme hyperopia or myopia
·
Hypertelorism or hypotelorism
Skin
·
Extremely loos or thin skin
·
Hirsutism
·
Hyperelastic skin
·
Leaf shaped white markings
·
Webbing between finger and toes
Mouth:
·
Cleft lip with or without cleft palate
·
Large or small tongue
·
Early loss of teeth
·
Late eruption of teeth
·
Thin upper lip
Extremities:
·
Contracture of the hand feet, toes
·
Arachnodactyly (long finger or toes)
·
Bradytactyly ( small finger or toes)
·
Camptotactyle (permenant flexion of finger or toes)
·
Clinotactyle (curved fingers or toes)
·
Extremely long or short extremities
·
Edema on the extrimities
·
Hypospastic
·
Hypotonic
·
Loose joints
·
Polydactyle or syndactyle
·
Single palmar cleases
·
Rocker bottom feet
Others:
·
Abdominal wall deviation
·
Short webbed neck
·
Single or widely spaced nipple
·
Unusual cry
·
Tall or short stature
·
Hernia
|
·
Post fontanel still open
·
Microcephaly
·
Prominent occiput
·
Craniosynostosis
·
Ear tags
·
Hypertelorism (widely spaced eyes)
·
Persistent Mongolian spot
·
Webbing between finger and toes
·
Mouth is deviated to left side
·
Late eruption of teeth
·
contracture of fingers,
·
Short stubby finger.
·
Rocker bottom feet.
·
Wrist widening.
·
Over riding of toes.
·
Enlarged abdominal wall and distention
·
Short webbed neck
·
widely spaced nipple
·
Unusual cry
·
short stature
|
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Investigation
|
·
Family history
·
Physical examination
·
Blood investigation
·
Karyotyping
·
TFT
·
X ray
·
USG
·
Blood chemistry (Metabolic studies)
|
·
Hb: 9.3gm/dl
·
Blood chemistry: Na: 134.3 mmol/l, K+: 4.02 mmol/l, Cl- : 102 mmol/l, and Ca++: 1.03 mmol/l
·
Usg abdomen to rule out KUB anomalies.
·
X ray
of the left wrist with tipoff the finger.
·
Thyroid function test.
·
Karyotyping to rule out genetic
abnormalities.
·
Complete blood count.
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Treatment
|
·
Constructing the pedigree and
analyzing of the padigree
·
Review patient past records and
prenatal history
·
clinical assessment:
·
Visual assessment
·
Measurement
·
Extended family
·
Genetic counseling\
·
Follow up
|
·
Clinical assessment was done
·
Genetic screening was done
·
Genetic counseling provided
·
Started with tablet wysolone 10 mg OD
for 5 days.
|
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Prognosis
|
Depends up on
the causes and type of dysmorphic features.
|
Baby is active
but dysmorphic features are not shown any favorable prognosis
|
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Discussion: Dysmorphsim
if a Greek word means badness of form. This refers to the malformation and
abnormality in the shape and size of the body. It can be facial or structural.
Baby Diya nomenclature of the present health problems is developmental and
genetic in nature with multiple major anomalies along with that deformity
Syndrome is seen. The baby is given wioth stating dose of tablet wysolone
10mg/day for 5 days and was discharged with genetic counseling to the parents and
asked to come for follow-up.
Reference:
1.
Jane
B, Ruth Band kay C “Caring for Children Principles of Pediatric Nursing.” 6th
edition. Pearson publication, 66 -75.
2.
Archar’s “ Textbook of Pediatric Nursing”
4th edition, universities press, 567
3.
Nelson, “Textbook of Pediatrics” 10th
edition, volume 1, Elsevier publication, 629.
5.
Pubmed
6.
Patient case record
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