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1989 1
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Page 1
Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.
Merza AM, Salih HM. Merza AM, et al. J Craniofac Surg. 2023 May 1;34(3):e228-e230. doi: 10.1097/SCS.0000000000009116. Epub 2022 Nov 2. J Craniofac Surg. 2023. PMID: 36319614
Surgical repair should be planned soon after diagnosis of any structural abnormality to prevent later speech and swallowing disorders. The lobulated tongue could be isolated (sporadic) or in association with other disorders. ...
Surgical repair should be planned soon after diagnosis of any structural abnormality to prevent later speech and swallowing disorders. The …
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.
Yamada M, Suzuki H, Futagawa H, Takenouchi T, Miya F, Yoshihashi H, Kosaki K. Yamada M, et al. Eur J Med Genet. 2022 Jun;65(6):104512. doi: 10.1016/j.ejmg.2022.104512. Epub 2022 Apr 18. Eur J Med Genet. 2022. PMID: 35439611
Oral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated …
Oral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple fre …
Epignathus combined with cleft palate, lobulated tongue, and lingual hamartoma: report of a case.
Noguchi T, Jinbu Y, Itoh H, Matsumoto K, Sakai O, Kusama M. Noguchi T, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 Apr;101(4):481-6. doi: 10.1016/j.tripleo.2005.06.025. Epub 2006 Jan 18. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006. PMID: 16545713
A case of epignathus combined with cleft palate, lobulated tongue, and lingual hamartoma is reported. A newborn female presented with a large skin-covered mass arising from the palate, cleft palate, and lobulated tongue with a soybean-sized lingual les …
A case of epignathus combined with cleft palate, lobulated tongue, and lingual hamartoma is reported. A newborn female present …
Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue.
Noguchi T, Sugiyama T, Sasaguri KI, Ono S, Maeda K, Nishino H, Jinbu Y, Mori Y. Noguchi T, et al. J Craniofac Surg. 2017 Mar;28(2):e141-e144. doi: 10.1097/SCS.0000000000003324. J Craniofac Surg. 2017. PMID: 28027175
He was diagnosed duplication of the pituitary gland-plus syndrome with epignathus, cleft palate, duplication of the mandible, and a lobulated tongue. A thumb-sized mass lesion was visible on the hard palate. ...The alveolar ridge was protruding through a wide-cleft …
He was diagnosed duplication of the pituitary gland-plus syndrome with epignathus, cleft palate, duplication of the mandible, and a lobul …
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additiona …
Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and …
Orofaciodigital syndrome with cerebral dysgenesis.
Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J. Lesca G, et al. Am J Med Genet A. 2006 Apr 1;140(7):757-63. doi: 10.1002/ajmg.a.31144. Am J Med Genet A. 2006. PMID: 16502430
Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulated tongue. Radiographs showed distal malformations of the four limbs. ...
Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulate …
Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.
Nagai K, Nagao M, Nagao M, Yanai S, Minagawa K, Takahashi Y, Takekoshi Y, Ishizaka A, Matsuzono Y, Kobayashi O, Itagaki T. Nagai K, et al. J Med Genet. 1998 Apr;35(4):342-4. doi: 10.1136/jmg.35.4.342. J Med Genet. 1998. PMID: 9598735 Free PMC article.
We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and …
We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, …
An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
Iijima T, Hayami N, Takaichi K, Morisada N, Nozu K, Iijima K, Sawa N, Hoshino J, Ubara Y. Iijima T, et al. Intern Med. 2019 Oct 15;58(20):2989-2992. doi: 10.2169/internalmedicine.2571-18. Epub 2019 Jun 27. Intern Med. 2019. PMID: 31243241 Free PMC article.
A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polycystic kidneys. Lobulated tongue and brachydactyly were noticed, prompting an OFD1 sequencing analysis. ...
A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polyc …
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
Meinecke P, Hayek H. Meinecke P, et al. J Med Genet. 1990 Mar;27(3):200-2. doi: 10.1136/jmg.27.3.200. J Med Genet. 1990. PMID: 2325097 Free PMC article.
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely …
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplas …
Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect.
Su WR, Wang PH, Lian JD, Lin MC. Su WR, et al. J Pediatr Orthop B. 2008 Jul;17(4):179-82. doi: 10.1097/BPB.0b013e3282ff4f77. J Pediatr Orthop B. 2008. PMID: 18525474
We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, polydactyly of both hands, polysyndactyly of the right big toe and fifth toe, and polydactyly of the left foot. ...
We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, p …
14 results