•B/O JN•D25 OF LIFE/ SVD @ 40 WEEKS/ BW3.025/AS 1’4 5’ 7•MOTHER: 37YO/PARA 3+2/ BG A+VE/VDRL/RT : NR•ANTENATALLY :1)GDM on diet control-dx @ 28 weeksHBA1c :5.4 %2) Polyhydramnions-AFI: 273) h/o ectopic and abortion in 2012** other children are healthyNo h/o consanginous marriage

Emergency tracheostomy by ENT team

Downward slanting palpebral fissure

Hypoplastic of zygomatic bones

Hypoplastic supraorbital rims

On examination :

MicrotiaMicrognathia

AFNT, Tone normalMoro’s complete & symetrical bilaterallyLungs : clearCVS : no murmur DRNMPA : soft, no hepatomegalyB/l femoral pulses palpableSpine normal, hips : stableDigits were normal

TREACHER COLLINS SYNDROME WITH DIFFICULT AIRWAY

Cleft palateALTE at D20/D23 of lifePresumed sepsis at D9&D22 of lifeSeizure at D22 of lifeThrombocytosis

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

Airway – TracheostomyFeeding – Tube feedingIV antibiotics ENT/Audiology PhysiotherapyDieticianCLAPAMJKSPSocial support

Rare genetic disorderThis disorder is named Edward Treacher Collins, a London ophthalmologist medical literature in 1900mandibulofacial dysostosis or Treacher Collins-Franceschetti

syndromeprevalence 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 testRadiographs 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 diagnosisTwo dimensional/ three dimesional sonography

PolyhydramnionsDemonstrations 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): 4112-41153) Prachi Shete, Tupkari JV1, Tabita Benjamin, Aarti Singh. A Case report on TCS. Journal of Oral and Maxillofacial Pathology 2011 Vol. 15 : 348-3514) 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-S905) Ranadheer E, Nagaraju, Suresh, Updesh. Eight year follow‑up dental treatment in apatient with Treacher Collins syndrome.J Indian Soc Pedod Prev Dent 2012;30:254-7.6) http://www.webmedcentral.com7) http://emedicine.medscape.com/article/9461438) http://www.rarediseases.org/docs.