Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome

Clinical Dysmorphology

Volumn 13, Issue 3, 2004, Pages 143-150

  Elliott, Alison M ^a   Reed, Martin H ^a,b,c   Evans, Jane A ^a,b,c   Cross, Howard G ^b   Chudley, Albert E ^a,b,c  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Department of Radiology ^*  (Canada)

^c CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

Author keywords

Cenani lenz syndactyly; Kabuki syndrome; Kissing delta phalanx

Indexed keywords

ARTHRODESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARPOMETACARPAL JOINT; CASE REPORT; CENANI LENZ SYNDACTYLY; CLINICAL EXAMINATION; FACE DYSMORPHIA; HAND MALFORMATION; HUMAN; JOINT DISLOCATION; KABUKI MAKEUP SYNDROME; LIMB MALFORMATION; MALE; OLIGODONTIA; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMINENT EAR; RADIOULNAR JOINT; SPLIT HAND FOOT MALFORMATION; SYNDACTYLY; SYNOSTOSIS; TOOTH MALFORMATION; BONE; CONGENITAL MALFORMATION; FACE; FACIAL BONE; FACIES; HAND; PHENOTYPE; RADIOGRAPHY; SYNDROME;

BONE AND BONES; CHILD, PRESCHOOL; FACE; FACIAL BONES; FACIES; HAND; HUMANS; MALE; PHENOTYPE; SYNDACTYLY; SYNDROME;

EID: 14844366269     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000127466.26888.15     Document Type: Article

References (32)

1. Bachelli C, Goodman FR, Scambler PJ, Winter RM (2001). Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. Clin Genet 59:203-205.
2. Barsky AJ (1958.) Congenital Anomalies of the Hand and Their Surgical Treatment. Springfield, IL: Charles C. Thomas.
3. Cenani A, Lenz W (1967). Syndacktylie und totale radioulnare Synostose bei zwei Brüdern. Z Kinderheilkd 101:181-190.
4. De Beer P, Schoenmakers EF, De Smet L, Van de Ven WJ, Fryns JP (1998a). Cosegregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3′/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. Clin Dysmorphol 7:225-228.
5. De Beer P, Schoenmakers EF, Thoelen R, Fryns JP, Van de Ven WJ (1998b). Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3′/4 synpolydactyly. Cytogenet Cell Genet 81:229-234.
6. De Smet L, Winnepenninckx B, Fryns J, Fabry G (1992). Cenani-Lenz type of syndactyly: a complex type of syndactyly with multiple synostoses. Genet Couns 3:145-147.
7. De Smet L, De Beer P, Fryns JP (1996). Cenani-Lenz syndrome in a father and daughter. Genet Couns 11:153-157.
8. Devriendt K, Van den Berghe H, Fryns JP, Reempst PV (1996). Large congenital follicular ovarian cyst in a girl with Kabuki syndrome. Am J Med Genet 65:90-91.
9. Dodinval P (1979). Oligodactyly and multiple synostoses of the extremities: two cases in sibs, a variant of Cenani-Lenz syndactyly. Hum Genet 48:183-189.
10. Drohm D, Lenz W, Yang TS (1976). Syndaktylie mit mesomeler Armverkürzung, radioulnären and metacarpalen Synostosen und Disorganisation der Phalangen ('Cenani-Syndaktylie'). Klin Pediatr 188:359-365.
11. Elçioǧlu N, Atasu M, Cenani A (1997). Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case. Am J Med Genet 70:341-345.
12. Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, et al. (1995). Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet 56:127-131.
13. Innes AM, Patton MA, Chudley AE (2003). Polydactyly in two unrelated patients with Kabuki (Niikiwa-Kuroki) syndrome. Proc Greenwood Gen Cen 22: 109-110.
14. Liebenam L (1938). Ueber gleichzeitiges Vorkommen von Gliedmassendefekten und osteoklerotischer Systemerkrankung. Z Mensch Vererb Konstitutionsl 21:697-703.
15. Malik S, Arshad M, Amin-ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik K-H (2004). A Novel type of Autosomal Recessive syndactlyly: Clinical and Molecular studies in a Family of Pakistani Origin. Am J Med Genet 126A:61-67.
16. Maas R, Elfering S, Glaser T, Jepeal L (1994). Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation. Dev Dyn 199:214-228.
17. Mhanni AA, Cross HG, Chudley AE (1999). Kabuki syndrome: description of dental findings in 8 patients. Clin Genet 56:154-157.
18. Milunksy JM, Huang XL (2003). Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64:509-516.
19. Nezarati MM, McLeod DR (2002). Cenani-Lenz syndrome: report of a new case and review of the literature. Clin Dysmorphol 11:215-218.
20. Percin EF, Percin S (2003). Two Unusual Types of Syndactyly in the Same Family: Cenani-Lenz Type and "New" Type Versus Severe Type I Syndactyly? Gen Couns 14:313-319.
21. Pfeiffer RA, Meisel-Stosiek M (1982). Present nosology of the Cenani-Lenz type of Syndactyly. Clin Genet 21:74-79.
22. Seven M, Yüksel A, Özkiliç, Elçioǧlu N (2000). A variant of Cenani-Lenz type Syndactyly. Genet Couns 11:41-47.
23. Temtamy S, McKusick VA. (1969). The genetics of Hand Malformations. Birth Defects: Original Article Series 14:320-322.
24. Temtamy S, McKusick V (1978). The Genetics of Hand Malformations. Birth Defects Original Article Series. New York: Liss.
25. Temtamy SA, Ismail S, Nemat A (2003). Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. Clin Dysmorphol 12:77-83.
26. Verma IC, Joseph R, Bhargava S, Mehta S (1976). Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet 9:8-14.
27. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ (2002). Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol 11:95-102.
28. Winter R, Tickle C (1993). Syndactylies and polydactylies: embryological overview and suggested classification. Eur J Hum Genet 1:96-104.
29. Wood VE, Rubinstein J (1999). Duplicated longitudinal bracketed epiphysis 'kissing delta phalanx' in Rubinstein-Taybi syndrome. J Pediatr Orthop 19:603-606.
30. Wood VE, Shuren N (2002). Duplicated longitudinal bracketed epiphysis 'kissing delta phalanx' in the hand. J Hand Surg (Br) 276:249-252.
31. Woychik RP, Steward TA, Davis LG, D'Eustachio P, Leder P (1985). An inherited limb deformity created by insertional mutagenesis in a transgenic mouse. Nature 318:36-40.
32. Yelton CL (1962). Certain congenital limb deficiencies occurring in twins and half-sibling. Inter-Clinic Inform Bull 1:1-7.