Oralfacialdigital syndrome type 1: a review

Adyanthaya, Amith; Adyanthaya, Soniya

doi:10.3329/bjms.v14i2.22781

Cited by 3 publications

(5 citation statements)

References 18 publications

(21 reference statements)

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“…Of the various subtypes of OFDS, the most diverse genetic mutations have been identified in patients with OFD1. Frameshift, insertion, nonsense, missense, slicing, or genomic rearrangements of OFD1 gene have been reported in cases 2 11 12 . However, study reported that OFD1 gene mutation was found in 81 of 100 OFD1 patients (81.0%) who had undergone genetic testing 13 .…”

Section: Discussionmentioning

confidence: 99%

“…Thus far, at least 16 subtypes have been reported depending on mode of inheritance and other abnormality of the kidneys, limbs, brain, and other organs ( Table 1 ) 1 . Oral-facial-digital syndrome type 1 (OFD1), which is the most frequent subtype, is transmitted in an X-linked dominant mode of inheritance, with lethality in males 2 3 . However, more than 70% of cases of OFD1 are sporadic 4 .…”

Section: Introductionmentioning

confidence: 99%

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Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

et al. 2022

Ann Dermatol

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Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anomalies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

et al. 2022

Ann Dermatol

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“…The phrase “Oral‐facial‐Digital Syndrome” (OFDS) refers to a group of genetic disorders that affect the face, oral tissues, and digits that appear to be unique from one another 1 …”

Section: Introductionmentioning

confidence: 99%

“…The phrase "Oral-facial-Digital Syndrome" (OFDS) refers to a group of genetic disorders that affect the face, oral tissues, and digits that appear to be unique from one another. 1 Among the cases reported in the literature, the first case was a child with a median cleft of the lower lip and jaw, a cleft sternum, and lack of the basihyoid was described by Morton and Jordon in 1935. 2 Mohr discussed the early genetic influences on reaction velocities that led to seemingly unrelated abnormalities but had deadly or sub-lethal consequences as well as a broad range of clinical variance.…”

Section: Introductionmentioning

confidence: 99%

An extremely rare case of Oro‐facial digital syndrome: A case report

Dwivedi¹,

Thakur²

2023

Special Care in Dentistry

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BackgroundOro‐facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X‐linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations.Case reportPresent case report describes a 9 year old girl patient who was mis‐diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features.ConclusionNot much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro‐facial digital syndrome.

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“…Most of these features are present at birth. Currently, at least 13 clinical types of OFDS have been identified which could be classified according to the existing anomalies [3][4][5]. Most of such children are born out of consanguineous marriages.…”

Section: Introductionmentioning

confidence: 99%

Orofaciodigital syndrome type II (Mohr syndrome): a case report

Malekianzadeh

Vosoughi

Zargarbashi

2020

BMC Musculoskelet Disord

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Background Orofacial digital syndrome is a rare genetic disorder with oral cavity, facial and digits anomalies. Orofacial digital syndrome type II, also called the “Mohr syndrome” is a very rare subtype that has been reported scarcely in Asia especially in Japanese patients. Case presentation The case is an Iranian 5-year old girl who had been admitted for orthopedic surgery. She surprisingly had pre and postaxial polydactyly of all the four limbs concurrent with syndromic face and most of the features of Orofaciodigital syndrome type II. Conclusion Mohr syndrome, anesthesia and surgical considerations are discussed in this case report. It is recommended to consider these considerations and the possibility of OFDS in every child with pre and postaxial polydactyly of the four limbs and to try to distinguish type II from other types of ODFS.

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Oralfacialdigital syndrome type 1: a review

Cited by 3 publications

References 18 publications

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

An extremely rare case of Oro‐facial digital syndrome: A case report

Orofaciodigital syndrome type II (Mohr syndrome): a case report

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Oralfacialdigital syndrome type 1: a review

Cited by 3 publications

References 18 publications

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

An extremely rare case of Oro‐facial digital syndrome: A case report

Orofaciodigital syndrome type II (Mohr syndrome): a case report

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Oralfacialdigital syndrome type 1: a review