However, in the present case, remarkable radiculomegaly of the primary dentition (panoramic images) was observed. [oatext.com]

Dysmorphism-multiple structural anomalies syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal ICD-10: Q87.8 OMIM: 227255 UMLS: C2931219 MeSH: - GARD: 5158 MedDRA: - The documents contained in this web site are presented [orpha.net]

Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. [ncbi.nlm.nih.gov]

Two patients presenting with all decayed primary teeth had not yet received dental treatment. [ojrd.biomedcentral.com]

• Multiple Congenital Anomalies

  Homepage Rare diseases Search Search for a rare disease Disease definition Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral [orpha.net]

  National Center for Advancing Translational Sciences Summary Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures [rarediseases.info.nih.gov]

  Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge [ncbi.nlm.nih.gov]

• Vomiting

  Gastro-oesophageal reflux and vomiting may induce enamel erosion of the palatal surfaces of mainly the incisors, but under normal circumstances rarely results in dental caries. [ojrd.biomedcentral.com]

• Downturned Corners of the Mouth

  corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic [orpha.net]

  Downturned corners of mouth MedGen UID: 356471 •Concept ID: C1866195 • Anatomical Abnormality A morphological abnormality of the mouth in which the angle of the mouth is downturned. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular [orpha.net]

  Wide nasal bridge MedGen UID: 341441 •Concept ID: C1849367 • Finding Increased breadth of the nasal bridge (and with it, the nasal root). [ncbi.nlm.nih.gov]

• Short Nose

  and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. [orpha.net]

  Abnormality of head or neck Abnormal facial shape Bulbous nose Downslanted palpebral fissures Downturned corners of mouth Long palpebral fissure Low posterior hairline Narrow mouth Short nose Webbed neck Wide nasal bridge Abnormality of prenatal development [ncbi.nlm.nih.gov]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

  […] diseases Search Search for a rare disease Disease definition Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism [orpha.net]

  National Center for Advancing Translational Sciences Summary Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism [rarediseases.info.nih.gov]

• Bulbous Nose

  Bulbous nose MedGen UID: 66013 •Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

This clinical report describes the endodontic treatment for a 16-year-old girl who suffers from OFCD syndrome. [jendodon.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Therefore, we plan to perform orthodontic treatment with crown restoration after pulp treatment in coordination with an orthodontist, endodontist, and prosthetic specialist after all of the present case’s premolar teeth have erupted and treatment has [oatext.com]

This can also be used in the assessment of progress of treatment. [ojrd.biomedcentral.com]

PMID: 21658862Free PMC Article Prognosis Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel [ncbi.nlm.nih.gov]

Role of SOX9 in the Etiology of Pierre-Robin Syndrome. Iranian journal of basic medical sciences. 2013;16(5):700-4. [revistas.unimilitar.edu.co]

Abnormality of the musculoskeletal system Generalized hypotonia Hemivertebrae Hypotonia Abnormality of the nervous system Corpus callosum, agenesis of Hydrocephalus Ear malformation Long ear Posteriorly rotated ears Growth abnormality Fetal growth restriction Etiology [ncbi.nlm.nih.gov]

Epidemiology. 2001 Sep; 12(5):502-7. DOI: https://doi.org/10.1097/00001648-200109000-00007 Beaty TH, Hetmanski JB, Zeiger JS, Fan YT, Liang KY, VanderKolk CA, McIntosh I. [revistas.unimilitar.edu.co]

Article CAS PubMed Central PubMed Google Scholar Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H: Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology [ojrd.biomedcentral.com]

CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. [ncbi.nlm.nih.gov]

Conclusions Prompt treatment of dental caries make it possible to maintain tooth function and prevent difficult root canal procedures with poor prognoses for success. [jendodon.com]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Prevention should commence as soon as primary teeth erupt. Oral hygiene should be maintained even when gastrostomy feeding is used. [ojrd.biomedcentral.com]