B/O JN

D25 OF LIFE/ SVD @ 40 WEEKS/ BW3.025/AS 14 5 7

MOTHER: 37YO/PARA 3+2/ BG A+VE/VDRL/RT : NR
ANTENATALLY :
1)GDM on diet control
-dx @ 28 weeks
HBA1c :5.4 %
2) Polyhydramnions
-AFI: 27
3) h/o ectopic and abortion in 2012
** other children are healthy
No h/o consanginous marriage



Baby born not vigorous & flat, poor tone, poor cry

RESUSCITATION WAS INTIATED !!!

Given PPV X 3 HR picked up 70-100 dropped < 100 & gasping
Attempted intubation multiple times failed oropharyngeal airway
inserted
HR < 60


CPR x 1 HR < 100
UVC was inserted given adrenaline 0.3 cc X 2 HR still not improving
given bolus NS 35cc X1 HR > 100
ETT was inserted via Right nostril in view of spo 30% improved

Emergency tracheostomy by ENT team
Downward slanting
palpebral fissure
Hypoplastic of
zygomatic bones
Hypoplastic
supraorbital rims
On examination :

Microtia Micrognathia
AFNT, Tone normal
Moros complete & symetrical bilaterally
Lungs : clear
CVS : no murmur DRNM
PA : soft, no hepatomegaly
B/l femoral pulses palpable
Spine normal, hips : stable
Digits were normal


TREACHER COLLINS SYNDROME WITH DIFFICULT
AIRWAY

Cleft palate
ALTE at D20/D23 of life
Presumed sepsis at D9&D22 of life
Seizure at D22 of life
Thrombocytosis







FBC
BG
COAG PROFILE
RP
LFT
BLOOD C&S
CXR
CHROMOSOMAL STUDY - PENDING

Airway Tracheostomy
Feeding Tube feeding
IV antibiotics
ENT/Audiology
Physiotherapy
Dietician
CLAPAM
JKSP
Social support

Rare genetic disorder
This disorder is named Edward Treacher
Collins, a London ophthalmologist medical literature
in 1900
mandibulofacial dysostosis or Treacher Collins-Franceschetti
syndrome
prevalence range between 1 in 40,000 to 1 in
70,000 of live birthsI
features are caused abnormal development of the first and
second branchial archs
Inherited in autosomal dominant pattern

An error in chromosome number 5 at TCOF1 gene treacle plays a
role in craniofacial development.

60% of TSC cases a new mutation without a positive family history of
the disorder.

A parent may be mildly affected & unaware that they have the disorder.

The risk of passing the abnormal gene from affected parent to offspring
is 50% for each pregnancy.

Other modes of inheritance autosomal recessive transmission & a role
for gonadal mosaicism & chromosomal rearrangement in the causation of
this syndrome have also been proposed TCS

Diagnostic clinical features

Diagnostic clinical test
Radiographs and CT for evaluation of
craniofacial abnormality
Audiological evaluation for hearing impairment
DNA diagnosis : Direct sequencing of the coding
and flanking intronics of TCOF1 defects mutations
in about 90-95 % of patients


Prenatal diagnosis
Two dimensional/ three dimesional
sonography
Polyhydramnions
Demonstrations of characteristics facies TCS

Amniocentesis/ CVS

Detect TCOF 1

The disease causing allele of an affected individual
must be identified before prenatal testing can be
performed

The presence of TCOF1 mutation detected by
prenatal diagnosis does not predict the specific
malformation or severity of the disease
The current approach for TCS's clinical deformities seeks functional and
esthetical correction as well as psychosocial support.

Multidisciplinary approach pediatricians, otorhinolarngologists,
craniofacial surgeons , ophthalmologists, speech therapists,
psychologists and pediatric dentists most appropriate way to manage
these patients.

Treatment use of hearing aids and multiple reconstructive
surgeries based on the severity to correct the facial
malformations.
1. Respiratory compromise due to
maxillary hypoplasia which results in choanal stenosis/atresia
and tends to constrict the nasal passages

2. Presence of mandibular micrognathia and a retropositioned
tongue obstructing the oropharyngeal and hypopharngeal
spaces

3. Very rarely sleep apnoea and sudden infant death syndrome have
been described in these patients

4. Social stigmata because of severe face deformity

The longevity of survival in patients with TCS is
comparable with that of the normal population.

Individuals with severe form of TCS usually, over a period
of time, undergo multiple major reconstructive surgeries
that are rarely fully corrective.

The majority of these patients are of normal intelligence
early recognition of deafness & its correction using
hearing aids and/or surgery is of great importance to
enable them to lead a near normal life
Prevent its occurrence in the offspring of affected
parents (40% chance of transmitting it).
Genetic counselling, good quality antenatal sonography
with amniocentesis and/or chorionic villus sampling


FACEBOOK -1 in 50,000 blog-Treacher Collins Syndrome, Help Suport Juliana
Wetmore Who Was Born With Rare Treacher Collins Syndrome,microtia and
atresia
Treacher collins family support group ( not in malaysia)

1)Sowmya B Shetty, Ann Thomas, Raghavendrea Pidamale. Treacher Collins Syndrome : A Case Report
and a Brief Review on Diagnostic Aids :International Journal of Clinical Pediatric Dentistry
2011;4(3):235-239.
2) Girish Gopal, Dr. Divya Durga , Dr. S. Prashanth. Treacher Collins Syndrome In The Newborn.
International journal of biological and medical research 2014; 5(2): 4112-4115
3) Prachi Shete, Tupkari JV1, Tabita Benjamin, Aarti Singh. A Case report on TCS. Journal of Oral and
Maxillofacial Pathology 2011 Vol. 15 : 348-351
4) Bowornsilp Chowchuen, Kamonwan Jenwitheesuk ,Prathana Chowchuen ,Palakorn Surakunprapha.
Challenges in Evaluation, Management and Outcome of the Patients with Treacher Collins
Syndrome. J Med Assoc Thai 2011; 94 (Suppl. 6): S85-S90
5) Ranadheer E, Nagaraju, Suresh, Updesh. Eight year follow-up dental treatment in a
patient with Treacher Collins syndrome.J Indian Soc Pedod Prev Dent 2012;30:254-7.
6) http://www.webmedcentral.com
7) http://emedicine.medscape.com/article/946143
8) http://www.rarediseases.org/docs.