CONGENITAL ABNORMALITIES OF FACE

PRESENTED BY: SUKHJIT KAUR

INTRODUCTION
Congenital malformations are defined as gross structural defects present at birth. In general, most congenital anomalies can be divided into three types

a) Disruptions b) Deformations c) Malformations

With the present advancement in embryology and genetics, and its correlations, the associated anomalies need to be differentiated from syndromes, from sequences and associations in patients with multiple congenital anomalies.

They are generally described in four categories:

MONOGENIC SYNDROME: Van der Woude

syndrome has been linked to Chromosome 1q32- q41. CHROMOSOMAL SYNDROME: Trisomies 13 and

SEQUENCE: Pierre Robin sequence ASSOCIATION: Oral clefts are frequently

18

associated with congenital heart defects.

ETIOLOGY OF CONGENITAL ABNORMALITIES

1. Nutritional Folic acid Homocystein (higher levels) Vit. B6 Vit. A Zinc To lesser extent Vit. B2, Vit B12, Vit C, - carotene, tocopherol, pantothenic acid, Biotin, iron, Magnesium

ETIOLOGY OF CONGENITAL ABNORMALITIES

2. Chromosomal Numerical abnormalities: trisomy, monosomy Autosomal abnormlities: Trisomy 21( Down Syndrome), Trisomy 17-18, Trisomy 13-15 Sex Chromosome abnormalities: Klinefelters syndrome(XXY, XXXY), Turners syndrome(XO) Structural abnormalities of chromosomes or abnormalities in crossover: e.g. # Deleltion # Translocation # Inversion # Mosaicism

3. Genetic Abnormalities of the genes: e.g. mutation. Three types of genetic mutations are under investigation in craniofacial disorders: Those that increase an individual's susceptibility for a given error in morphogenesis but produce a phenotype only through interaction with other genes or environmental factors; Those that produce phenotypes directly; and Those that modify expression of disease producing genes and thus alter the phenotype.) (Various genes and loci have been identified as responsible for orofacial clefts. These include 1q, 2p, 4q, 6p, 14q, 17q, and 19q)

4. Environmental Smoking Alcoholism Residents near hazardous waste disposal sites suffer from neural tube defects Environmental chemicals

5. Occupation of mother: Cleft palate is more in hair dresser mothers 6. Chemicals: Cleft lip and/ or palate: aliphatic aldehydes, glycolic ether

Cleft palate:

7. Infections Viral Infections: syphilis 8. Hyperthermia

lead, biocides, antineoplastic, trichloroethylene, aliphatic acids

9. Radiation exposure

10. Drugs: Aminopterin (antagonist of folic acid) Diphenhydantoin (Phenytoin) Trimethadione Antianxiety drugs (diazepam, chlordiazepoxide) more associated with cleft lip with /without cleft palate Tetracyclines Amphetamines 11. Hormones Cortisone (in mice)

FACTORS AFFECTING ACTIONS OF TERATOGENS

It depends upon: The stage of embryonic development: it determines the susceptibility to teratogenic factors.

Pre-differentiation stage:

Consequences to fetal development: Site of embedding on the anterior or posterior uterine wall may have consequences to fetal accessibility. Ectopic implantation constitutes risk to fetus and mother. Embryonic period: Clinical consequences of errors at this stage of development: Anterior midline of germ disc is subject to necrosis from high dose alcohol explains midline craniofacial features and holoprosencephaly. Fetal period: cerebral deformities result during this period.

Genotype Mechanism of action on cell metabolism: e.g. inhibition of nucleic

acid or protein synthesis.

SUMMARY OF FACE DEVELOPMENT

Facial structures and their corresponding origin can be summarized as follows: 1. Frontonasal process: dorsum & apex of nose, ethmoid bones 2. Lateral nasal process: sides of nose 3. Medial nasal process: nasal septum, philtrum, premaxilla, primary palate 4. Maxillary process: upper cheek, most of upper jaw and lip 5. Mandibular process: lower jaw, chin, lower lip, lower cheek

DEVELOPMENTAL DEFECTS OF FACE

Formation of face involves fusion of these diverse components. This fusion is often incomplete and gives rise to various abnormalities. Also disruptions in the formation of these prominences lead to facial clefting and other defects.

DEFECTS OF THE FRONTONASAL PROMINENCE (DURING 4TH TO 6TH WEEK OF IUL)

Excess tissue in frontonasal prominence: Frontonasal Dysplasia

Broad nasal bridge, Hypertelorism, Cleft nose, Median cleft lip Can be associated with other defects (e.g. tetralogy of Fallot in Heart)

Excess tissue in frontonasal prominence: Frontonasal Dysplasia

HYPERTELORISM

WIDER NASAL BRIDGE

SOURCE:http://www.oucom.ohiou.edu/dbms-witmer/peds-rpac.htm

MEDIAN CLEFT NOSE AND LIP

Deficient tissue in frontonasal prominence: Holoprosencephaly

Defective formation of forebrain (prosencephalon) manifests as midfacial defects

Caused by: excessive alcohol, genes (sonic hedgehog), excessive

Wide range of facial defects Mild: short, upturned nose; deficient philtrum; arched palate; microcephaly Extreme: medial nasal prominences and intermaxillary process fail to form; absence of nasal septum & ethmoid bone; single nostril (cebocephaly); hypotelorism or even cyclopia with proboscis. retinoic acid

ABSENCE OF PREMAXILLA

CEBOCEPHALY

SOURCE:http://www.oucom.ohiou.edu/dbms-witmer/peds-rpac.htm

SUMMARY OF PALATE DEVELOPMENT

Development of palate Palatal development begins in week 5, but weeks 6-9 are most critical

Formation of intermaxillary segment from merged medial nasal process Primary palate forms from median palatine process Ossifies as the premaxillary portion of the maxilla Lateral palatine processes Ingrowths from maxillary prominences appear in the 6th week Eventually project horizontally above the tongue in 7th week. Fuse with each other, primary palate (in 7-8th wk), and nasal septum Fusion with lateral palatine processes starts anteriorly (7-8wk), then moves back (fusion is complete at the end of 12th week)
Soft palate is the unossified portion of lateral palatine processes

ISOLATED INTERMAXILLARY SEGMENT AND PALATINE PROCESSES

FUSION WITH INTERMAXILLARY SEGMENT

COMPLETELY FORMED PALATE

DEFECTS OF MANDIBULAR ARCH

CLEFT LIP AND/OR CLEFT PALATE

Incidence:

cleft lip - males>females,

incidence 1/1000 cleft palate - females>males, incidence 1/2000 lip : lip + palate : palate 22% : 58% : 20% Syndrome associated

CLASSIFICATION OF CLP
Cleft lip and palate can be classified in many different ways. Types of facial clefts are: Median cleft lip Unilateral Cleft Lip It forms as a persistent labial groove. Simonart band: it is a bridge of tissue spanning the cleft Bilateral Cleft Lip Central soft-tissue mass that moves freely

SOURCE: http://www.oucom.ohiou.edu/dbmswitmer/peds-rpac.htm

FACIAL CLEFTS

unilateral

bilateral

Source: www.lifescript.com

CLASSIFICATION OF CLP
Anterior Cleft Anomalies
Result from failure of lateral palatine processes to fuse to primary palate. Clefting of alveolar process of maxilla as well as lip. Complete cleft extends to incisive foramen. Complete bilateral anterior cleft isolates the anterior and posterior parts of the palate.

Posterior Cleft Anomalies

Result from failure of lateral palatine processes to grow medially and fuse to each other Clefts extending through both soft and hard (bony) palate to the incisive foramen. Isolates anterior and posterior parts of palate

Complete cleft palate

Complete bilateral cleft of the lip and alveolar process of the maxillae with bilateral cleft of the anterior palate and unilateral cleft of the posterior palate. Complete bilateral cleft of the lip and alveolar process of the maxillae with complete bilateral cleft of the anterior and posterior palate.

CLASSIFICATION OF CLP
Oblique facial cleft:
It results from failure of the maxillary prominence to fuse with the lateral nasal prominence. The cleft extends from the upper lip to median angle of eye. It is nearly always associated with Cleft Palate.

SOURCE: quizlet.com

 Lateral facial cleft/

macrostomia:
Inadequate fusion of maxillary and mandibular processes leads to macrostomia. Excessive mouth opening; large oral aperture. Unilateral or bilateral, extending from the commissure towards the ear. may occur as an isolated defect, but more often it is associated with other disorders e.g. Mandibulofacial dysostosis, hemifacial microsomia, Amniotic rupture sequence.
SOURCE: openi.nlm.nih.gov

EMBRYOLOGICAL CLASSIFICATION OF CLEFT LIP/PALATE: KERNAHAN AND STARK SYMBOLIC CLASSIFICATION

This classification system provides a graphic classification scheme using a Yconfiguration, which can be divided into 9 areas: Areas 1 and 4 Lip Areas 2 and 5 Alveolus Areas 3 and 6 Palate between the alveolus and the incisive foramen Areas 7 and 8 Hard palate Area 9 Soft palate

EMBRYOLOGICAL CLASSIFICATION OF CLEFT LIP/PALATE: KERNAHAN AND STARK SYMBOLIC CLASSIFICATION

SOURCE: quizlet.com

 Group I: cleft of the primary palate only

Unilateral Bilateral Total Subtotal

Group II: cleft of the secondary palate only Group III: cleft of both primary & secondary palate
Unilateral total, subtotal Median total, subtotal Bilateral total, subtotal Total Subtotal Sub mucous

Clefts can be non-syndromic, isolated defects or may be present with cleft associated anomalies. According to a study done in a Tertiary Care centre in India for cleft associated anomalies, Of the 2600 cleft patients, 198 had associated anomalies. Associated anomalies were more frequent in patients with cleft lip and palate (32%) than in patients with cleft lip alone (11%) or patients with cleft palate alone (22%). A significant percentage of patients (36%, 72 / 198) with associated anomalies were syndromic. The common syndromes were Van der Woude syndrome, Median facial dysplasia syndrome and Pierre Robin Sequence.

COMMON SYNDROMES ASSOCIATED WITH OROFACIAL CLEFT (OFC) Van der Woude Syndrome transmitted as an autosomal dominant bilaterally located lower lip pits at the junction of dry and wet

vermilion. The associated features are hypodontia, missing maxillary or mandibular second premolar teeth, absent maxillary lateral incisor and ankyloglossia. The orofacial anomalies are due to an abnormal fusion of the palate and lips, at days 30-50 postconception. The gene responsible for this syndrome has been localized to chromosome band 1q32 whose effect can be influenced by a second modifying gene at chromosome band 17p11.
SOURCE: Neville

 Pierre Robin sequence triad of glossoptosis,

micrognathia and airway obstruction. The theory behind this sequence is: the initial event is mandibular Source: http://php.med.unsw.edu.au/embryology/inde hypoplasia between the x.php?title=BGDB_Face_and_Ear__Abnormalities 7th & 8th wks of gestation, which keeps the tongue high in the oral cavity preventing closure of palatal shelves resulting in formation of classic inverted U-shaped cleft palate. Oligohydramnios leads to deformation of the chin and subsequent impaction of the tongue between palatal shelves.

 Median facial dysplasia midline facial deficiencies in the presence

of a unilateral or bilateral cleft lip with or without cleft palate. early dish face, Class III occlusion and severe maxillary hypoplasia. Early recognition of these subgroups of patients helps to plan the course of treatment.

 Fetal Alcohol Syndrome (FAS)

A condition characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system. primarily affects the midline of the face, altering morphology of the eyes, nose, and lips. Ethanol damage to cranial neural crest cells (CNCC) early in embryonic development is responsible for these minor midline abnormalities. Facial features: Microcephaly Palpebral fissure - short opening of eye Epicanthal folds Midface - flat Nasal Bridge - low Philtrum - Indistinct, vertical grooves between nose and mouth Upper Lip - thin Micrognathia Ears - curve at top. A part of outer ear is underdeveloped and folded over parallel to curve beneath. Gives the appearance of a "railroad track

Source: http://php.med.unsw.edu.au/embryology/index.php?title=BGDB_Face_and_Ear_-_Abnormalities

 Treacher Collins syndrome (TCS)

A rare autosomal dominant craniofacial disorder (1:50,000) caused by frameshift deletions or duplications in the TCOF1 gene. hypoplasia of the mandible and zygomatic complex down-slanting palpebral fissures coloboma of the lower eyelid absence of eyelashes medial to the defect external and middle ear malformation

conductive hearing loss

SOURCE: Shafers Textbook of oral pathology

TREATMENT OF CLEFTS
SURGICAL
CLEFT LIP REPAIR

Timing- the rule of 10 as a guide for timing of lip &

anterior palate repair. At the time of operation: the hemoglobin should be 10 gm percent, age approximately 10 weeks, weight 10lbs (4.54 kg) & TLC < 10,000 per cubic mm

CLEFT PALATE REPAIR

Timing- Effect of the cleft palate repair on mid facial

growth, speech & dental occlusion greatly influences the timing of repair. the repair of palate between 1-1 year of age gives the best balanced result.

 PROSTHODONTIC MANAGEMENT OF
CLEFT PALATE
An obturator can be given which is a prosthesis used to close a congenital or acquired tissue opening primarily in hard palate and contiguous alveolar structures.

Other congenital abnormalities of jaws are:

AGNATHIA
Maxilla or Mandible may be totally or partially absent owing to failure of migration of neural crest mesenchyme into the maxillary prominence at the 4th-5th wk of gestation/ postconception. The condition is rare and lethal. It is associated with abnormally positioned ears. It may be due to TMJ ankylosis, condylar hypoplasia or as a feature among various syndromes. Too much fusion of maxillary and mandibular processes may lead to microstomia.

RETROGNATHIA

MICROSTOMIA

FACIAL HEMI HYPERTROPHY and ATROPHY

Source: Neville

DOUBLE LIP
It is a rare congenital oral anomaly characterized by a redundant fold of tissue on the mucosal side of the lip. It arises during the second to third month of gestation as a result of persistence of the sulcus between the pars glabrosa and pars villosa of the lip. Upper lip is more commonly involved as compared to lower lip.

Source: Neville

FISSURAL OR INCLUSION CYSTS

Median anterior maxillary cyst (nasopalatine duct
cyst): Features: Males are more commonly affected Small cysts are asymptomatic; large cysts include symptoms like pain, swelling, discharge. A salty mouth taste with Source: devitalization of pulp of associated teeth Neville Median palatal cyst It arises from the epithelium entrapped along the line of fusion of the palatal processes of maxilla. It is located in the midline of the hard palate between lateral processes. Radiographic features show radiolucency opposite to bicuspid and molar region

 Globulomaxillary cyst
Radiographic features:
Inverted pear shaped radiolucent area between the roots of maxillary lateral incisor and cuspid causing divergence of roots.
Source: Shafers

 Nasoalveolar cyst/ klestadts cyst

It is not found within the bone; it arises at the junction of globular process as a result of entrapped epithelium along the line of fusion. It may cause swelling in the mucolabial fold as well as in the floor of nose, being located near the attachment of the ala over the maxilla.

EPSTEINS PEARLS & BOHNS NODULES

EPSTEINS PEARLS
SOURCE: Shafers textbook of oral pathology

CONGENITAL ABNORMALITIES OF SALIVARY GLANDS

Aplasia (agenesis)
Any one or group of salivary glands may be absent. It may be unilateral or bilateral. Its etiology is unknown; it is sometimes associated with Hemifacial microsomia, LADD, mandibulofacial dysostosis

Treatment

Its treatment is supportive and directed at relieving xerostomia and its effect.

Atresia

Absence of one or more of major salivary gland ducts. Aberrancy Occurrence of accessory salivary gland farther than their usual location It is of no clinical significance

CONGENITAL ANOMALIES OF TONGUE

macroglossia
muscle hypertrophy congenital haemangioma or lymphangioma Downs syndrome lingual thyroid

Source: Neville

CONGENITAL ANOMALIES OF TONGUE

Cleft tongue/ Bifid tongue:

www.scielo.cl

 Ankyloglossia: Ankyloglossia superior/

From: Neville glossopalatine ankylosis: Median rhomboid glossitis: Thyroid tissue may be present in the tongue either under mucosa or within the muscles.

 Thyroglossal tract cyst

Remnants of thyroglossal duct may form cysts at the base of tongue. (www.radiologyassistant.nl) Treatment: Sistrunk Operation i.e. excision of the whole thyroglossal tract, (which involves removal of the body of hyoid bone and suprahyoid tract through the tongue base to the vallecula at the site of the primitive foramen caecum), together with core of tissue on either side. Fissured tongue: Surface of tongue may show fissures

CONGENITAL ABNORMALITIES OF NOSE

Nasal clefts: Nose may be bifid or one

half may be absent. median cleft, lateral cleft

Depending on the defects severity, reconstruction may be warranted.

SOURCE: http://emedicine.medscape.com/article/8372 36-overview#a30

Holoprosencephaly with proboscis

SOURCE: markitscience.blogspot.com

 cylindrical projection or

proboscis/congenital tubular nose.

develop on one side and is replaced by a tubular structure emanating from the medial canthus. The condition is caused by the developmental failure or absence of medial and lateral nasal processes, resulting in fusion of the maxillary process with the contralateral nasal process.
Etiology and embryogenesis: the external nose fails to

Clinical presentation and management

absence of the nasal cavity and paranasal sinuses on one side. The nasolacrimal duct ends blindly. Proboscis lateralis may be
associated with other congenital anomalies, particularly those of the CNS. Surgical treatment involves rerouting of the nasolacrimal duct and excision of the tubular deformity. Reconstruction may be a staged procedure, commencing during adolescence.

 Supernumerary,
or accessory, nostrils:
can be associated with facial clefts and can be unilateral (most cases) or bilateral. The accessory nostril may communicate with the ipsilateral nasal cavity. TREATMENT: Surgery with an early excision of the fistulous or blind tract or with a fistulorhinostomy.
SOURCE: http://emedicine.medscape.com/article/837236overview#a30

 Arrhinia
Etiology and embryogenesis: often associated with anomalies of the ocular and central nervous systems. It has been associated with inversion and trisomy of chromosome 9.

Polyrrhinia

Two completely formed noses. Duplication of media nasal processes during embryogenesis. Management consists of excision of the medial halves of each nose.

SOURCE: http://emedicine.medscape.com/article/837236overview#a30

CONGENITAL ABNORMALITIES OF THE NASAL CAVITY

Atresia: There may be atresia of cavity at the anterior nares or at
the posterior nares or in the cavity proper. This may be unilateral or bilateral. It may be due to failure of rupture of bucconasal membrane (nasal fin) of nasal sac (8th week) for posterior nares; and blind nasal sac ventrally for anterior nares. lead to a communication between cranial cavity and nose.

Congenital defects in the cribriform plate of the ethmoid bone may Nasal septum may be absent or may be deviated.

(All these malformations occur due to defective development of frontonasal process.)

Nasal cavity may communicate with the mouth due to failure of

palatine closure.

CONCLUSION
In the past, all types of congenital malformations were taken as Gods will or Natures fancy. But the contribution of medical investigators, geneticists and biochemists have now broadened and deepened the knowledge of prenatal pathology. With the ongoing research in these areas, it is now possible to prevent a few congenital abnormalities. Also if any abnormality is diagnosed at an earlier stage, appropriate decision regarding the future treatment can be taken.