DYSMORPHIC

CHILD
 PRESENTERS

• LAYENI JUBRIL . O
• MADU CHISOM . I
 OUTLINE

• INTRODUCTION
• DEFINITION OF TERMS USED IN DYSMOPHOLOGY
• AETIOLOGY
• MANAGEMENT OF THE DYSMORPHIC CHILD
• HISTORY AND
• PHYSICAL EXAMINATION
• LABORATORY EVALUATION
• DIAGNOSIS
• TREATMENT
• REFERENCES
INTRODUCTION
 The term dysmorphic is used to describe children
whose physical features, particularly facial are
not usually found in a child of the same age or
ethnic background. Some features are abnormal
in all circumstances e.g., pre/mature fusion of the
cranial sutures
DEFINITION OF TERMS
 There are special terms in conceptualization of
the art of dysmorphology like malformation,
deformation, disruption, sequence and
association.
MALFORMATION

 A malformation/anomaly is a primary defect

where there is a basic alteration of structure,
usually occurring before 10 weeks of gestation.
Example cleft lip, anencephaly or radial agenesis.
A malformation could be major which requires
surgical intervention e.g., spina bifida / CHD or
minor malformation that requires no treatment
or can be corrected totally e.g. Polydactyly.
DEFORMATION

 Deformations / Secondary defect are anomalies

caused by unusual mechanical pressure on the
developing foetus, usually during the last
trimester of gestation e.g., club feet, torticollis
and plagiocephaly.
DISRUPTION

 Disruption occurs when there is a breakdown of

normal tissue either due to mechanical, vascular
or infectious causes. Example: amniotic band
sequence and Pierre Robin sequenc
SYNDROME

 (Greek word meaning running together): A

dysmorphic syndrome is a recognized pattern of
two or more anomalies in an individual due to a
common cause. Most of them are made up of one
or more major anomalies together with a variable
number of minor anomalies. Rarely, any one of
these features is diagnostic; instead the entire
constellation of defects must be taken into
consideration to define the diagnosis.
ASSOCIATION

 is a non-random occurrence of the same multiple

anomalies for which no consistent cause can be
established. The core anomalies usually consist of
six to eight features and any individual patient
rarely has all the core features. Example: VATER
(Vertebral Renal dysplasia), CHARGE
(Coloboma, Heart defect, Atresia choanae,
Growth/MR, genital hypoplasia, Ear
abnormalities).
SEQUENCE

 is used when a single usually undefined event leads

to a single anomaly having a cascading effect that
causes local and/or distant deformations and/or
disruptions, such as Potter sequence
(oligohydramnios with beak nose, cartilage-
deficient ears, pulmonary hypoplasia) and amniotic
band sequence (bands constricting the blood
supply to involved limbs with amputation and/or
syndactyly), Pierre Robin sequence (micrognathia
with glossoptosis and cleft palate).
DYSPLASIA

 Defects resulting from abnormal, cellular

organization or function of one tissue type. These
may worsen with age e.g., skeletal dysplasia,
ectodermal dysplasia.
COMPLEXES

 Refer to anomalies of several different structures all

of which lie in the same local body region during
embryonic development. Many of them are caused
by vascular abnormalities. Risk of recurrence is low
e.g., hemifacial microsomia, Poland anomaly, sacral
agenesis, etc.
AETIOLOGY
 Genetic mutation
 Teratogenic agents

 Genetic inheritance

 Complicated labour
MANAGEMENT
 The steps of dysmorphologic evaluation are as
follows:
Suspicion (congenital abnormalities, growth
problems, mental retardation)
 History

 Physical Examination

 Investigations

 diagnosis

 treatment
FAMILY HISTORY
• Three generation family history
• Birth defects
• Other genetic disease
• Multiple miscarriages
• Parental ages and health status
• Consanguinity
ANTENATAL

• Possible teratogenic exposures

• Results of diagnostic procedures (Ultrasound,
Amniocentesis) Complications (Bleeding, High
fever)
• Fetal Move
PERINATAL

Gestation
• Complications of labour
• Fetal presentation
• Mode of delivery
• Neonatal status (Vigor, Anthropometry,
• Breathing, Measurements, Seizures)
• Newborn course (Feeding, Obvious anomalies,
• Complications, Resuscitation)
POSTNATAL HISTORY
• Physical growth (Height, Weight, Head circumferenc
e)
• Developmental progress (early milestones,
• Formal psychometric testing)
• General health (Illness, Operations, Special studies)
• Seizures
• Any difficulties with vision or hearing. Behavioural p
henotype

PHYSICAL EXAMINATION
 This is of extreme importance and requires skill and
an "eye" to pick up abnormalities. Table below gives
some important dysmorphic features to be looked
for. One should use well defined and uncommon
handles for search.
INVESTIGATIONS
 A large proportion of children do not require any
investigation. However some may need following
investigations:

 Chromosomal analysis
 Fluorescent in situ hybridization

 Direct DNA analysis

 Radiologic imaging e.g

MRI,CT,USS,ECG,Echocardiogram
DIAGNOSIS
 After detailed history and thorough examination
ascertain whether the child is actually
dysmorphic/has structural abnormalities or not. If
the child has a single anomaly, is it major or minor
and provide appropriate therapy and counseling
accordingly. If there are multiple minor/major
abnormalities classify as dysplasia, deformation,
sequence, syndromic, chromosomal or teratogenic
diagnosis
TREATMENT
 Most dysmorphism do not have treatment
however some can be corrected by surgical
intervention eg surgical correction of cleft lip &
palate , intrauterine surgery to correct amniotic
band constriction.
SYNOPHYRS
SCAPHONCEPHALY
PLAGIOCEPHALY
TELECANTHUS
BRACHYCEPHALY
VACTERL
REFERENCES
 www,wikipedia,com
 NELSON TEXT BOOK OF PEDIATRICS