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Thakker-Donnai Syndrome


Presentation

  • No skin lesions in the form of basal cell nevus, palmar or plantar pits, or keratosis were present. No other anomalies of the skeletal, cardiovascular, or central nervous system were present. A diagnosis of Gorlin Goltz Syndrome was made.[ncbi.nlm.nih.gov]
  • Moreover, radiculomegaly was present in permanent incisors and premolars as we reported here.[scielo.br]
  • In this case report, the patient presented clinical characteristics similar to those of Marfan syndrome [ 14, 15, 16 ].[mdpi.com]
Asymptomatic
  • Internal examinations showed congenital heart defect with ASD and VSD that were asymptomatic. Cardiologic assessment showed that cardiac defects tended to close spontaneously over time as the child grew.[scielo.br]
  • After a control orthopantomography, a radiolucency and asymptomatic lesion appeared in the left mandibular branch. To guide the surgeon in proper patient management, a computer tomography was done.[mdpi.com]
Atrial Septal Defect
  • septal defect (ASD), ventricular septal defect (VSD), floppy mitral valve], and dental irregularities (canine radiculomegaly, hypodontia, delayed permanent dentition) (1).[scielo.br]
  • This syndrome is characterized by congenital cataracts with secondary glaucoma ocular defects, ventricular and atrial septal defects, or mitral valve prolapses. Facial traits are a long narrow face and a high nasal bridge with a bifid nasal tip.[mdpi.com]
Dentist
  • Usually dentists are the first clinicians who notice characteristic manifestations of this disorder.[scielo.br]
  • Dentists and orthodontists might be in the best position to diagnose this syndrome because they work with dental radiographs.[mdpi.com]
Sleep Apnea
  • Obstructive sleep apnea in children with Marfan syndrome: Relationships between three-dimensional palatal morphology and apnea-hypopnea index. Int. J. Pediatr.[mdpi.com]
Failure to Thrive
  • Clinical evaluation of both twins at the age of 12 months revealed mild to moderate developmental delay and failure to thrive. They were unable to sit independently.[scielo.br]
Hypertension
  • However, in our patient, the defect was getting larger with appearance of moderate pulmonary hypertension followed by dyspnea and growth failure.[scielo.br]
Heart Murmur
  • In early childhood, she was diagnosed with a heart murmur but with no heart defect. She was born with bilateral incomplete (incipient) cataract.[scielo.br]
Malocclusion
  • Note the missing teeth, gummy smile, and severe malocclusion. Figure 2. Pre-treatment, intra-oral photographs of patient showing right ( A ), frontal ( B ), and left occlusion ( C ). Note the missing teeth, gummy smile, and severe malocclusion.[mdpi.com]
  • Clinical examination showed high arched palate, numerous missing teeth and class II malocclusion with mild overbite on the remaining frontal teeth.[scielo.br]
High Arched Palate
  • Clinical examination showed high arched palate, numerous missing teeth and class II malocclusion with mild overbite on the remaining frontal teeth.[scielo.br]
Dolichocephaly
  • She had dolichocephaly, long face, bilateral microphthalmia, bilateral cataract with completely cloudy lens, ptosis and downward eyebrows, long philtrum, mildly broad nasal tip, cleft dental ridge in midline, high palate, partial syndactyly of 2nd and[scielo.br]
Angiomatosis
  • It can occur as an isolated finding or be associated with other dental anomalies or some syndromes such as Mohr syndrome (oro-facial-digital II), Sturge-Weber syndrome (encephalo-trigeminal angiomatosis), Rubinstein-Taybi syndrome, incontinentia pigmenti[scielo.br]
Narrow Face
  • Facial traits are a long narrow face and a high nasal bridge with a bifid nasal tip.[mdpi.com]
  • face, high nasal bridge, septate nasal cartilage, cleft palate), congenital cardiac defects [atrial septal defect (ASD), ventricular septal defect (VSD), floppy mitral valve], and dental irregularities (canine radiculomegaly, hypodontia, delayed permanent[scielo.br]
Nystagmus
  • Examination of the 32-year-old mother of the monozygotic twins revealed normal height, weight and head circumference, with a high number of congenital anomalies including facial dysmorphism: long face, long philtrum, left ptosis, iris coloboma, and horizontal nystagmus[scielo.br]

Treatment

  • Treatment plan of this case report. Table 2. Treatment plan of this case report. Treatment Phase Treatment Objective Phase 1 Upper mouthguard Lower fixed appliance Disocclusion and possibility of placement of upper fixed appliance.[mdpi.com]
  • Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of the patients with aggressive basal cell carcinomas and malignant neoplasias.[ 3 ] We report here[ncbi.nlm.nih.gov]

Etiology

  • Talon cusp or dens evaginatus is a very rare dental anomaly of unclear etiology and significance. W.H. Mitchell was the first who described this morphological anomaly in 1892 (8).[scielo.br]

Prevention

  • As this condition requires early diagnosis to prevent clinical progression and complication, the onus for this often lies with the dental teams. Footnotes Source of Support: Nil Conflict of Interest: None declared. REFERENCES 1.[ncbi.nlm.nih.gov]
  • Therefore, surgical closure of ASD at the age of 8 months was successfully performed to prevent development of Eisenmenger syndrome ( Table 1 ). Twin 2 was more severely affected than her twin sister at newborn age.[scielo.br]

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