Developmental Anomalies PDF

Malformation: Defect due to localize error in morphogenesis resulting in an abnormal Congenital Developmental Anomalies: shape or structure, with interference in function. E.g. cleft pa...

Malformation: Defect due to localize error in morphogenesis resulting in an abnormal Congenital Developmental Anomalies: shape or structure, with interference in function. E.g. cleft palate Defects which are present at birth or before birth during the intra-uterine life because of either heredity or environmental Deformation: An alteration in shape or structure of a previously normally formed part. influences E.g. - Cleft lip & palate E.g. torticollis Hereditary Developmental Anomalies: Developmental Disturbances Of Oral Anomaly: Any deviation from normal. It is same as malformation but there is no Defects are genetically transmitted from the parents to the offspring, where definite genetic interference with function. E.g. peg shaped lateral And Para Oral Structures location is identified E.g. Downs syndrome –Trisomy 21 Anomalad: Malformation and subsequently derived structural changes. E.g. Robin anomalad where hypoplasia of the mandible result in cleft palate and respiratory difficulty. Familial Developmental Anomalies: Defects are transmitted from the parents to the offspring, where definite genetic location is not identified E.g. – Diabetes Basic Sciences Wed. Sep. 4. 2024 1 6 8 Developmental Disturbances of soft tissue Acquired Developmental Anomalies: Lip pits:Congenital lip pits. Paramedian lip pits: Defects develop during intra-uterine life due to some pathological environment condition Commissural: common 1-20% As deep as 2 cm Can be Prenatal / neonatal / Postnatal E.g.: 1. Congenital Syphilis ▪ Autosomal D: in some cases - Notched incisors ▪ Uni/bilateral blind tracts at angle of lip, up to 4 mm - Mulberry molars 2. Fluorides - Enamel hypoplasia Double lip: usually congenital ▪ Horizontal folds of mucosal tissue Inner aspect of U > L lip 9 13 14 MACROGLOSSIA Down syndrome (Trisomy 21 syndrome) Frenal Tag:  It is a condition when patient have an enlarged tongue Flat face  True macroglossia and pseudomacroglossia ▪ Autosomal D Large anterior fontanel ▪ U labial frenum  Pseudomacroglossia includes any of the following conditions,which force the tongue to sit in an abnormal position: Open sutures Habitual posturing of the tongue, Small slanting eyes with epicanthal folds Fordyce granules: Enlarged tonsils/adenoids Collection of sebaceous glands Open mouth  True macroglossia can be congenital or acquired Mostly bilateral on Buccal mucosa Cardiac abnormalites CAUSES FOR CONGENITAL MACROGLOSSIA Yellow spots Macroglosia Over development of the musculature Histologically: Down syndrome High arched palate superficial no hair Beckwith-Wiedemann syndrome Glands (1-5 lobules) that empty into a duct that opens on the mucosal surface. 15 20 21 CLEFT TONGUE/Bifid Tongue FISSURED TONGUE/ SCROTAL TONGUE MEDIAN RHOMBOID GLOSSITIS  Complete cleft tongue occurs due to lack of merging of lateral lingual swellings. ▪ Deep fissures may be seen in children or adults but ↑ with age Central papillary atrophy of the tongue / posterior lingual papillary atrophy  Partial cleft tongue occurs due to incomplete merging and failure of groove ▪ Down syndrome & Melkersson-Rosenthal Syndrome It is an asymptomatic elongated erythematous patch of atrophic mucosa on the mid obliteration by underlying mesenchymal proliferation  Histologic Features dorsal surface of the tongue.  Partially cleft tongue occurs more common and is manifested as deep groove in the midline of dorsal surface A biopsy is rarely performed on a fissured tongue because of its characteristic diagnostic  Food debris and microorganisms collect in base of cleft and cause irritation clinical appearance; however, histologic examination has shown an increase in the thickness of the lamina propria, loss of filiform papillae of the surface mucosa, hyperplasia of the rete pegs, neutrophilic micro abscesses within the epithelium, and a mixed inflammatory infiltrate in the lamina propria. 26 27 28 HAIRY TONGUE LINGUAL THYROID NODULE Histological features: BLACK HAIRY TONGUE, LINGUA NIGRA, LINGUA VILLOSA ▪ Thyroid tissue at mid-posterior dorsum of tongue  characterized by marked accumulation of keratin on filiform papillae of the dorsal ▪ Failure of migration Atrophic stratified squamous epithelium surface resulting in a hair like appearance  Occasionally pseudoepitheliomatous hyperplasia, ▪ Clinically: 2-3cm smooth sessile mass Histologic Features.  Presence of fungal hyphae, ▪ Apparent during puberty or adolescence  Loss of papillae,elongated rete ridges and lymphocytic infiltration. Consist of elongated filiform papillae, with mild hyperkeratosis and occasional inflammatory cells. HISTOPATHOLOGY  Median rhomboid glossitis shows a smooth or nodular surface covered by atrophic  Lingual thyroid nodule consist of normal mature thyroid tissue stratified squamous epithelium overlying a moderately fibrosed stroma Debris accumulation among the papillae and candidal pseudohyphae is not unusual finding.  Occasionally thyroid nodules may exhibit colloid degeneration  Fungiform and filiform papillae are not seen, although surface nodules may mimic or perhaps represent anlage of these structures.  A mild to moderately intense chronic inflammatory cell infiltrate may be seen within subepithelial and deeper fibrovascular tissues. 29 31 33  Amelogenesis imperfecta Also known as Hereditary enamel dysplasia/Hereditary brown enamel/Hereditary brown opalescent tooth Group of conditions caused by defects in the genes encoding enamel matrix proteins Affects both dentition deciduous and permanent Developmental anomalies of Teeth Types And Jaw Part II Amelogenesis imperfecta may set in during any stage of enamel formation. Based on that there are 4 types 1. Hypoplastic type - Defective matrix deposition 2. Hypocalcification type – Defective calcification 3. Hypomaturation type- Defective maturation Basic Sciences 4. Hypomaturation-hypoplastic with taurodontism Wed. Sep. 18. 2024  DENTINOGENESIS IMPERFECTA Hypoplastic type : It is the hereditary developmental disturbance of the dentin in the absence of any systemic There is defective formation of matrix. Histologic Features : disorder. Enamel doesn’t form to full thickness on newly erupted developing teeth. Affected teeth are gray to yellowish-brown Teeth exhibit complete absence of enamel or there may be presence of enamel on some focal areas Hypoplastic type Also known as “Hereditary opalescent dentin” & “Capdepont’s teeth” Enamel thickness is usually below normal Lack of differentiation of ameloblast cells with little or no matrix formation According to Shields it is classified as Quantity is affected, but quality of formed enamel is normal Dentinogenesis imperfecta I – It occurs with Osteogenesis Imperfecta with opalascent teeth. Tooth appears as though prepared for receiving a prosthetic crown Hypocalcification type Deciduous teeth more severely affected. Abnormal matrix structure & mineral deposition Hypomaturation type Dentnogenesis imperfecta II- In this the tooth gives a look as if it has cheesy consistency Alteration in the enamel rod & rod sheath structures Both dentition affected Dentinogenesis imperfecta III- It is also like type II with some clinical and radiological variations like multiple pulp exposures periapical radiolucencies and variable radiographic appearance. Both dentition affected Multiple pulpal exposures in deciduous dentition Histologic Features. Histologic Features MICROGNATHIA Enamel & mantle dentin are normal Abnormal enamel & dentin Also known as Mandibular hypoplasia The dentin, on the other hand, is composed of irregular tubules, with large areas of It is a condition in which a child has a very small lower jaw. uncalcified matrix. The widening of the pre-dentin layer Bird face appearance Remaining dentin is severely dysplastic & exhibits vast areas of inter-globular dentin The presence of large areas of inter-globular dentin a)True micrognathia b) Pseudo micrognathia Dentinal tubules are short, disoriented, irregular & widely spaced 2 types true micrognathia Scanty odontoblasts line the pulp and they can be seen in the defective dentin An irregular tubular pattern of dentin. 1) Congenital The DEJ is Smooth Characteristically, the reduced enamel epithelium around uneruptcd teeth shows many 2) Acquired irregular calcified bodies. Large pulp chamber with pulp stones Etiology of congenital – unknown But associate with Congenital Heart Disease or Pierre Robin Syndrome Calcification in follicular connective Acquired Post natal in origin Causes Ankylosis of joint as result of trauma/infection CAUSES OF MICROGNATHIA FACIAL HEMIATROPHY FACIAL HEMIHYPERTROPHY Congenital - Pierre Robin syndrome Also known as Parry Romberg Syndrome, Progressive Facial Hemiatrophy, Progressive Also called Friedreich’s Disease hemifacial atrophy Significant unilateral enlargement of the face - Catel Manzke syndrome Parry and Romberg in 1846 Represents hyperplasia of tissues rather than hypertrophy - Cerebrocostomandibular syndrome ORAL MANIFESTATIONS Syndromes associated: Intrauterine acquired conditions – congenital syphillis Dental anomalies: incomplete root formation, delayed eruption and Neurofibromatosis severe facial asymmetry Beckwith Wiedemann syndrome Eruption of teeth on the affected side may be retarded. Albright syndrome Chromosomal abnormality - Trisomy 18 - Turners syndrome Atrophy of half of the upper lip and tongue ETIOLOGY Deviation of jaws while opening the mouth Unknown, but due to vascular or lymphatic absence, CNS disturbances, chromosomal absence. Autosomal dominant conditions - Treacher Collins syndrome - Pallister Hall Syndrome A characteristic loss in the soft tissues of essentially half the face. Coup de sabre’ – Autosomal recessive conditions - Cohen syndrome - Craniomandibular dermatodysostosis Treacher Collins Syndrome(Mandibulo Facial Dysostosis) Convex facial profile Mandibular and midface hypoplasia Underdeveloped or absence of zygomatic bones Downward inclination of palpebral fissures 75% pt: COLOBOMA: notch on outer portion of lower eye lid Occasional facial clefts Palate: high arched with 30% clefts Retrusive chin Deformed pinna