Overlapping phenotypes in OFD type II and OFD type VI: Report of two cases

Clinical Dysmorphology

Volumn 22, Issue 3, 2013, Pages 109-114

  Panigrahi, Inusha ^a   Das, Rashmi R ^a   Kulkarni, Ketan P ^a   Marwaha, Ram K ^a  

^a Advanced Pediatrics Centre   (India)

Author keywords

bifid thumb; central polydactyly; duplicated hallux; lobulated tongue; midline cleft upper lip; Mohr syndrome; tongue nodules; Y shaped metacarpal

Indexed keywords

ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLEFT PALATE; CLINICAL FEATURE; CLINODACTYLY; CONDUCTION DEAFNESS; DISEASE SEVERITY; DYSOSTOSIS; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FEMALE; HAND MALFORMATION; HAND RADIOGRAPHY; HEARING IMPAIRMENT; HUMAN; HYPERTROPHY; HYPOPLASIA; MALE; MALOCCLUSION; METACARPAL BONE; NUCLEAR MAGNETIC RESONANCE IMAGING; OROFACIALDIGITAL SYNDROME TYPE II; OROFACIALDIGITAL SYNDROME TYPE VI; PALATOPLASTY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETROGNATHIA; SCHOOL CHILD; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; OROFACIODIGITAL SYNDROMES; POLYDACTYLY;

EID: 84879952532     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32835fe161     Document Type: Article

References (22)

1. Anneren G, Arvidson B, Gustavson K-H, Jorulf H, Carlsson G (1984). Oro-faciodigital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet 26:178-186. (Pubitemid 14065291)
2. Baraitser M, Winter RM. London Medical Databases (LMD).
3. Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, et al. (2009). OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 85:465-481.
4. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, et al. (2007). The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert type B) and Meckel syndrome. Nat Genet 39:875-881. (Pubitemid 47014487)
5. Doss BJ, Jolly S, Qureshi F, Jacques SM, Evans MI, Johnson MP, et al. (1998). Neuropathologic findings in a case of OFDS type VI (Vá radi syndrome). Am J Med Genet 77A:38-42.
6. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. (2004). Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet 125A:125-134. (Pubitemid 38268843)
7. Haug K, Khan S, Fuchs S, Konig R (2003). OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Am J Med Genet 91A:135-137.
8. Hedera P, Innis JW (2003). Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. Am J Med Genet 122A:257-260. (Pubitemid 37152873)
9. Hosalkar HS, Shah H, Gujar P, Kulkarni A, Yagnik MG (1999). Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. J Postgrad Med 45:123-124.
10. Hseih YC, Hou JW (1999). Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 86A:278-281.
11. Mohr OL (1941). A hereditary sublethal syndrome in man. Skr Norske Vidensk Akad 1. Mat Naturv Klasse 14:3-17.
12. Muënke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH (1990). Oral-facial-digital syndrome Type VI (Vá radi syndrome): further clinical delineation. Am J Med Genet 35:360-369. (Pubitemid 20068466)
13. Oral-Facial-Digital Syndromes (OFDS) Research Study (2009). National Human Genome Research Institute. Available at: http://www.genome.gov/27529974 [Accessed 2 February 2011].
14. Orstavik KH, Lindemann R, Solberg LA, Foerster A, Sørland SJ (1992). Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother. Clin Genet 42:19-21.
15. Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B. Oral-Facial-Digital type F I (OFDI) Collaborative Group (2008). Mutational spectrum of the OFD type I syndrome: a study on a large collection of patients. Hum Mutat 29:1237-1246.
16. Shashi V, Clarke P, Rogol AD,Wilson WG (1995). Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? Am J Med Genet 57A:22-26.
17. Stenram U, Cramnert C, Axfors-Olsson H (2007). Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray. Acta Paediatr 96:1099-1104.
18. Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, et al. (2009). Genomic deletions of OFD1 account for 23 of oral-facial-digital type 1 syndrome after negative DNA sequencing. Hum Mutat 30: E320-E329.
19. Toriello HV (1993). Oral-facial-digital syndromes. Clin Dysmorphol 2:95-105.
20. Toriello HV (2009). Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet 149A:1089-1095.
21. Urioste M, Martinez Frias ML, Bermejo E, Jimé nez N, Romero D, Nieto C, et al. (1994). Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am J Med Genet 49A:94-97. (Pubitemid 24011529)
22. Váradi V, Papp Z (2005). 25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI). Orv Hetil 146:2017-2022. (Pubitemid 46141588)