Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

American Journal of Medical Genetics

Volumn 90, Issue 5, 2000, Pages 407-422

  Verloes, Alain ^a,g   Lesenfants, Sylviane ^a   Barr, Mason ^b   Grange, Dorothy K ^c   Journel, Hubert ^d   Lombet, Jacques ^a   Mortier, Gert ^e   Roeder, Elisabeth ^f  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Vannes Hospital   (France)

^e GHENT UNIVERSITY   (Belgium)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g CHU SART TILMAN   (Belgium)

Author keywords

Frontometaphyseal dysplasia; Hallux hypoplasia; Melnick Needles syndrome; Omphalocele; Otopalatodigital syndrome; Thumb hypoplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FACE MALFORMATION; GARDNER SYNDROME; HUMAN; INFANT; KARYOTYPING; MALE; OMPHALOCELE; PRIORITY JOURNAL; SYNDROME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; BONE AND BONES; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0034723715     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D     Document Type: Article

References (63)

1. André M, Vigneron J, Didier F. 1981. Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome. J Pediatr 98:747-752.
2. Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A. 1991. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28. Hum Genet 88:228-230.
3. Blanchet P, Lefort G, Eglin MC, Rieu D, Sarda P. 1993. Multiple congenital anomalies associated with an oto-palato-digital syndrome type II. Genet Couns 4:289-294.
4. Brewster TG, Lachman RS, Kushner DC, Holmes LB, Isler RJ, Rimoin DL. 1985. Oto-palato-digital syndrome, type II - An X-linked skeletal dysplasia. Am J Med Genet 20:249-254.
5. Corona Rivera JR, Corona Rivera E, Corona Rivera A, Quiles Corona M, Velez Gómez E, Arana Gutiérrez MA. 1999. Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. Am J Med Genet 85:79-81.
6. Danks DM, Mayne V, Hall RK, McKinnon MC. 1972. Frontometaphyseal dysplasia. Am J Dis Child 123:254-258.
7. de la Cruz Sevilla E, Conception Moscardo L, Verdu Bellod JF, Lopez Martinez E, Ruiz de la Cuesta F. 1980. Osteidisplastia: sindrome de Melnick-Needles. Una variedad de displasia osea. Description de un nuevo caso. An Esp Pediatr 13:704-709.
8. Deleporte B, Buissart JP, Vankemmel P, Remy J, Maroteaux P, Galley F, Savary J, Fournier JL, Fontaine G. 1985. L'ostéodysplasie ou syndrome de Melnick et Needles syndrome; (à propos d'une nouvelle observation). J Genet Hum 33:13-20.
9. Dereymaeker AM, Christens J, Eeckels R, Heremans G, Fryns JP. 1986. Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. Helv Paediatr Acta 41:339-351.
10. Donnenfeld AE, Conard KA, Roberts NS, Borns PF, Zackai EH. 1987. Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. Am J Med Genet 27:159-173.
11. Eccles DM, Moore IE, Cook S, Griffin DR, Chitty L, Hall CM, Temple, IK. 1994. Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. Clin Dysmorphol 3:175-179.
12. Exner GU. 1988. Serpentine fibula-polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? Eur J Pediatr 147:544-546.
13. Farhud DD, Walizadeh GR, Farhud I. 1989. Oto-palato-digital syndrome in an Iranian infant. Monatsschr Kinderheilkd 137:681-683.
14. Fitch N. 1979. Classification and identification of inherited brachydactylies. J Med Genet 16:36-44.
15. Fitch N, Jequier S, Gorlin R. 1983. The oto-palato-digital syndrome, proposed type II. Am J Med Genet 15:655-664.
16. Fitch N, Jequier S, Papageorgiou A. 1976. A familial syndrome of cranial, facial, oral and limb anomalies. Clin Genet 10:226-231.
17. Fryns JP, Maertens R, van den Berghe H. 1979. Osteodysplasty. A rare skeletal dysplasia. Acta Paediatr Belg 32:65-68.
18. Fryns JP, Schinzel A, van den Berghe H. 1988. Hyperlaxity in males with Melnick-Needles syndrome. Am J Med Genet 29:607-611.
19. Gardner RJ, Morrison PS, Abbott GD. 1983. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. J Pediatr 102:600-602.
20. Garrett C, Berry AC, Simpson RH, Hall CM. 1990. Yunis-Varon syndrome with severe osteodysplasty. J Med Genet 27:114-121.
21. Gendall PW, Kozlowski K. 1992. Oto-palato-digital syndrome type II. Report of two related cases. Pediatr Radiol 22:267-269.
22. Glass RBJ, Rosenbaum KN. 1995. Frontometaphyseal dysplasia: neonatal radiographic diagnosis. Am J Med Genet 57:1-5.
23. Gorlin RJ, Knier J. 1982. X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. Am J Med Genet 13:465-467.
24. Greally MT, Jewett T, Smith WL Jr, Penick GD, Williamson RA. 1993. Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia. Am J Med Genet 47:1086-1091.
25. Grosse KR, Böwing B. 1980. Osteodysplastie. In: Spranger J, Tolmie JL, editors. Klinische Genetik in der Padiatrie. Stuttgart: Thieme Verlag. p 80-86.
26. Hoar DI, Field LL, Beards F, Hoganson G, Rollnick B, Hoo JJ. 1992. Tentative assignment of a gene for oto-palato-digital syndrome to distal Xq (Xq26-q28). Am J Med Genet 42:170-172.
27. Holder SE, Winter RM. 1993. Otopalatodigital syndrome type II. J Med Genet 30:310-313.
28. Horn D, Nitz I, Bollmann R. 1995. Oto-palato-digital syndrome with features of type I and II in brothers. Genet Couns 6:233-240.
29. Hunter AGW, Carpenter BF. 1991. Ateposteogenesis and boomerang dysplasia. A question of nosology. Clin Genet 39:471-480.
30. Jervis GA, Jenkins EC. 1975. Case report 31. Syndrome identification. 3:18-21.
31. Kaplan J, Maroteaux P. 1984. Syndrome oto-palato-digital de type II. Ann Genet 27:79-82.
32. Kozlowski. K. 1999. Radiographic documentation does not permit the diagnosis of MNS. Am J Med Genet 85:88.
33. Kozlowski K, Mayne V, Danks DM. 1973. Precocious type of osteodysplasia. A new autosomal recessive form. Acta Radiol Diagn (Stockh) 14: 171-176.
34. Kozlowski K, Turner G, Scougall J, Harrington J. 1977. Oto-palato-digital syndrome with severe X-ray changes in two half brothers. Pediatr Radiol 6:97-102.
35. Krajewska-Walasek M, Kozlowski K. 1994. Melnick-Needles syndrome. Australas Radiol 38:146-147.
36. Le Marec B, Odent S, Bracq E, Bulard MB, Bourdinière J, Babut JM. 1988. Oto-palato-digital type I syndrome in five generations. Differential diagnosis with type II. Ann Genet 31:155-161.
37. Majewski F, Enders H, Ranke MB, Voit T. 1993. Serpentine fibula-polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. Eur J Pediatr 152:916-921.
38. Nishimura G, Hariushi T, Kim OC, Sasamoto Y. 1997. Atypical changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. Am J Med Genet 73:132-138.
39. Ogata T, Matsuo N, Nishimura G, Hajikano H. 1990. Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. Am J Med Genet 36:226-231.
40. Preis S, Kemperdick H, Majewski F. 1994. Oto-palato-digital syndrome type II in two unrelated boys. Clin Genet 45:154-161.
41. Reardon W, Hall CM, Dillon MJ, Baraitser M. 1991. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? J Med Genet 28:622-626.
42. Riconda D, Cullen M, Williams C. 1991. Prenatal diagnosis of oto-palato-digital syndrome, type II: the diagnosis problem of a bone dysplasia associated with multiple malformations. Am J Hum Genet 49:933
43. Robertson S. 1999. Reply to letter to the editor by Kozlowski - "Radiographic documentation does not permit the diagnosis of MNS." Am J Med Genet 85:89.
44. Robertson S, Gunn T, Allen B, Chapman C, Becroft D. 1997. Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. Am J Med Genet 71:341-347.
45. Saint-Martin J, Péborde J, Dupont A, Béguère A, Labès A. 1978. Malformations osseuses complexes d'évolution létale. Arch Fr Pediatr 36:188-193.
46. Sellars SL, Beighton PH. 1978. Deafness in osteodysplasty of Melnick and Needles. Arch Otolaryngol 104:225-227.
47. Shi SR. 1985. Temporal bone findings in a case of otopalatodigital syndrome. Arch Otolaryngol 111:119-121.
48. Slaney S, Boyd P, Firth H. 1993. X linkage in boomerang dysplasia (abstract). J Med Genet 30:341.
49. Spranger J. 1985. Pattern recognition in bone dysplasias. Prog Clin Biol Res 200:315-342.
50. Stern HJ, Graham JMJ, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL. 1990. Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet 36: 183-195.
51. Stoll C, Alembik Y. 1994. Oto-palato-digital syndrome type II. Genet Couns 5:61-66.
52. Stratton RF, Bluestone DL. 1991. Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. Am J Med Genet 41:169-172.
53. Superti-Furga A, Gimelli F. 1987. Fronto-metaphyseal dysplasia and the oto-palato-digital syndrome. Dysmorphol Clin Genet 1:2-5.
54. ter Haar B, Hamel B, Hendriks J, de Jager J. 1982. Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 13:469-477.
55. Theander G, Ekberg O. 1981. Congenital malformations associated with maternal osteodysplasty. Acta Radiol Diagn (Stockh) 22:369-377.
56. Theodorou SD, Ierodiaconou MN, Gerostathopoulos N, Grivas T. 1982. Osteodysplasty (Melnick-Needles syndrome) in a male. In: Papadatos CJ, Bartsocas CS, editors. Skeletal dysplasias. New York: Alan R Liss. p 139-142.
57. van der Lely H, Robben SG, Meradji M, Derksen-Lubsen G. 1991. Melnick-Needles syndrome (osteodysplasty) in an older male - Report of a case and a review of the literature. Br J Radiol 64:852-854.
58. Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, VanMaldergem L, Deconinck H, Meire F. 1993. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am J Med Genet 46:132-137.
59. Verloes A, Journel H, Le Merrer M, Hennekam RC. 1996. Otopalatodigital syndrome type II, Yunis-Varon syndrome and severe Melnick-Needles syndrome: are they really distinct entities? (abstract). David Smith Workshop on Malformations and Morphogenesis.
60. von Oeyen P, Holmes LB, Trelstad RL, Griscom NT. 1982. Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). Am J Med Genet 13:453-463.
61. Winter RM, Baraitser M. 1999. London dysmorphology database and photolibrary, windows version 2. Oxford: Oxford Electronic Publishing.
62. Young K, Barth CK, Moore C, Weaver DD. 1993. Otopalatodigital syndrome type II associated with omphalocele: report of three cases. Am J Med Genet 45:481-487.
63. Young S, Gregson N, Jacob P. 1991. The efficacity of maternal age screening for Down's syndrome in Wessex. Prenat Diagn 11:419-425.