She presented with typical features of OFD1 which included thin wiry hairs, frontal bossing, depressed nasal bridge and alar hypolplasia [Figure 1]. Thin wiry hairs were also seen in the present case. [jisppd.com]

Present case had multiple clinical manifestations with more pronounced oral features with digital and few facial features. Some of these facial features may not be present or may be of different intensities. [ijdr.in]

All the members of the current report presented with bifid tongue and the 2 elder siblings presenting with characteristic nodular swellings on the tongue surface. [scialert.net]

• Short Stature

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

  Stature in Gorgan (Northeast Iran), 2005 How to cite this article: Arun M. [scialert.net]

  Seizures, precocious puberty, and short stature can be associated. [accessanesthesiology.mhmedical.com]

• Epigastric Pain

  Clinical History A 28-year-old female presented with epigastric pain. On general examination brachydactyly was seen in hands and feet. [eurorad.org]

• Dental Caries

  Buffering capacity of saliva in patients with active dental caries. Asian J. Biochem., 5: 280-283. CrossRef | Direct Link | [scialert.net]

  Dental caries process. Dent Clin N Am 1998;43: 635-64. [jisppd.com]

• Arthralgia

  Syndrome, Wissler' | s | Syndrome, Wissler-Fanconi | Wissler Fanconi Syndrome | Wissler Syndrome | Wisslers Syndrome A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia [icd9.chrisendres.com]

• Antimongoloid Slant

  Ocular: Hypertelorism; displaced medial and lateral canthi; antimongoloid slanting of palpebral fissures; exotropia; see-saw winking. [esanatos.com]

• Hearing Impairment

  Children with hearing impairments often require auditory habilitation measures, which may include hearing aids and other technical devices (see below under “Habilitation”). [socialstyrelsen.se]

  Impairment, External Ophthalmoplegia, And Thrombocytopenia OORS 147750 Genetic Test Registry Jackson-Weiss Syndrome Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities JWS 123150 Genetic Test Registry Joubert Syndrome 10 JBTS10 300804 Genetic [ukgtn.nhs.uk]

• Median Cleft Lip

  median cleft lip, cleft palate, palatal grooves, alveolar notching, hyperplastic oral frenula, lobulated/bifid tongue, tongue hamartomas, missing incisor teeth, supernumerary teeth, periodontal diseases, malocclusion), digits (brachydactyly, clinodactyly [accessanesthesiology.mhmedical.com]

  Hypoplasia of the alae nasi, median cleft lip, or pseudo cleft upper lip are common. Brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger are common. [pocketdentistry.com]

  The most frequent symptoms are accessory oral frenulum, broad alveolar ridges, frontal bossing, high palate, hypertelorism, lobulated tongue, median cleft lip, and wide nasal bridge. [en.wikipedia.org]

  Median cleft lip Postaxial polydactyly NA Thick hair Fused kidneys TOF VSD Corpus callosum agenesis Moderate intellectual disability. [ciliajournal.biomedcentral.com]

• Mild Cognitive Impairment

  Mild cognitive impairment with lobulated tongue, abnormal dentition and patchy areas of baldness were other associated findings. Imaging Findings Ultrasonography of the entire abdomen was done and cholelithiasis was found to be the cause of pain. [eurorad.org]

Although mental retardation is a prominent feature of this syndrome, neuroradiologic workup is infrequent. [link.springer.com]

This requires careful imaging and other workup as aqueduct stenosis symptoms in the following paragraphs ; 39 ( 12 ):918-31 as. [mail.urbanlifelourdes.com.br]

Careful physical and genetic workups are, therefore, necessary. As the delineation of syndromes continues, the classification of this complex condition will evolve. [medlink.com]

Poonam Sawant examined the patient, assisted in the diagnostic workup, assisted in the histopathological and clinical diagnosis and assisted in the initial manuscript. [redalyc.org]

• Antinuclear Autoantibodies

  Antinuclear Autoantibodies directed against various nuclear antigens including DNA, RNA, histones, acidic nuclear proteins, or complexes of these molecular elements. [icd9.chrisendres.com]

Treatment includes correction of craniofacial, digital abnormaliities surgically and counselling to cope with learning disabilities. [3] The treatment targets on improving the patient's confidence to live a near normal life. [eurorad.org]

Management and treatment Treatment involves cosmetic or reconstructive surgery for cleft lip and/or palate, tongue nodules, and accessory frenulae, removal of accessory teeth, orthodontia for malocclusion, surgery to repair syndactyly, as well as routine [orpha.net]

The comprehensive treatment for OFD1 syndrome includes a wide array of measures, as the clinical presentation of the same is diverse. As a part of the treatment plan, the treatment alternatives were explained to the children and their mother. [scialert.net]

Orthodontic treatment of an open bite patient with oral-facial-digital syndrome. Am J Orthod Dentofacial Orthop 1996; 110 (02) 137-144 [thieme-connect.com]

Some findings in orthodontic diagnosis and treatment procedures are presented. [pocketdentistry.com]

Prognosis Male mortality usually occurs in the first or second trimester of pregnancy. [orpha.net]

Prognosis Prognosis depends on the specific type of OFD syndrome and the symptoms present in the individual. OFD syndrome type I is lethal in males before birth. However, other types of OFD syndrome are found in both males and females. [encyclopedia.com]

In view of the frequency of associated cerebral abnormalities (13%) of OFD syndrome, neuroradiologic evaluation is valuable as a guide to prognosis and therapy for these children. [link.springer.com]

The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post‐mortem examination of the fetus confirmed severe hypoplasia of the left ventricle of the heart. [ncbi.nlm.nih.gov]

Oral Health Needs in a Tertiary Dental Hospital • Survey of Fluoride Concentration in Drinking Water Sources and Prevalence of DMFT in the 12 Years Old Students in Behshar City • Buffering Capacity of Saliva in Patients with Active Dental Caries • An Etiologic [scialert.net]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs2020.bvsalud.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Etiology OFD1 is caused by mutations in the OFD1 gene (Xp22) encoding a protein localized in the centrosome and basal body of primary cilia, which play an important role in development. A fraction of cases displays genomic deletions. [orpha.net]

SYNDROME 1964-74 (Prov) Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs2020.bvsalud.org]

Summary Epidemiology Estimated annual incidence of 1/250,000 to 1/50,000 live births has been reported. Almost all patients are female. Exceptional cases of affected males have been described. [orpha.net]

Year introduced: 1979 PubMed search builder options Subheadings: anatomy and histology chemically induced classification complications diagnosis diagnostic imaging drug therapy embryology enzymology epidemiology ethnology etiology genetics history metabolism [ncbi.nlm.nih.gov]

Epidemiological and clinical aspects of dental cellulitis in antananarivo. J. Medical Sci., 7: 1108-1111. CrossRef | Direct Link | Kaya, S., N. Hamamci, I. Yavuz, O. Adiguzel and E.C. Tumen, 2008. [scialert.net]

Pathophysiology Caused by mutations in the CXORF5 gene mapped on Xp22.3-p22.2. It is tough that the OFD1 protein regulates the formation, length and organization of the centrosome of primary cilia. [accessanesthesiology.mhmedical.com]

Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3 171 172.  Allanson JE. Noonan Syndrome. [de.slideshare.net]

This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth. [jisppd.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs2020.bvsalud.org]

Author Affiliations SEATTLE AND BUCKLEY, WASHINGTON †Instructor in preventive medicine, University of Washington School of Medicine; formerly, resident in pediatrics, University Hospital. ‡Director of laboratories, Rainier School. [nejm.org]