메뉴 건너뛰기




Volumn 143, Issue 6, 2007, Pages 521-527

Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Author keywords

Anomalies; Arab; Cranium bifidum; Hypertelorism; MCA; Skeletal

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DAUGHTER; DISEASE ASSOCIATION; FEMALE; HUMAN; HUMERORADIAL SYNOSTOSIS; LIMB MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SAUDI ARABIA;

EID: 33847414454     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31612     Document Type: Review
Times cited : (5)

References (55)
  • 2
    • 84907113750 scopus 로고
    • Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality
    • Alsing A, Christensen C. 1988. Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. Ophthal Paed Genet 9:149-155.
    • (1988) Ophthal Paed Genet , vol.9 , pp. 149-155
    • Alsing, A.1    Christensen, C.2
  • 3
    • 0027403248 scopus 로고
    • Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3
    • Barone CM, Marion R, Shanske A, Argamaso RV, Shprintzen RJ. 1993. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet 45:745-750.
    • (1993) Am J Med Genet , vol.45 , pp. 745-750
    • Barone, C.M.1    Marion, R.2    Shanske, A.3    Argamaso, R.V.4    Shprintzen, R.J.5
  • 4
    • 0007092988 scopus 로고
    • Amniopterin embryopathy syndrome
    • Char F. 1979. Amniopterin embryopathy syndrome. Am J Dis Child 133:1189-1190.
    • (1979) Am J Dis Child , vol.133 , pp. 1189-1190
    • Char, F.1
  • 5
    • 0141756247 scopus 로고    scopus 로고
    • A novel locus for parietal foramina maps to chromosome 4q21-q23
    • Chen G, Zhang D, Feng G, Liu W, He L. 2003. A novel locus for parietal foramina maps to chromosome 4q21-q23. J Hum Genet 48:420-424.
    • (2003) J Hum Genet , vol.48 , pp. 420-424
    • Chen, G.1    Zhang, D.2    Feng, G.3    Liu, W.4    He, L.5
  • 6
    • 0024356911 scopus 로고
    • Skeletal dysplasia syndrome with progroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz-Majewski syndrome
    • Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Van den Berghe H, Wisniewski L. 1989. Skeletal dysplasia syndrome with progroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz-Majewski syndrome. Am J Med Genet 32:470-474.
    • (1989) Am J Med Genet , vol.32 , pp. 470-474
    • Chrzanowska, K.H.1    Fryns, J.P.2    Krajewska-Walasek, M.3    Van den Berghe, H.4    Wisniewski, L.5
  • 8
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes. and guidelines for differential diagnosis
    • Cohen MM Jr. 1993. Pfeiffer syndrome update, clinical subtypes. and guidelines for differential diagnosis. Am J Med Genet 45:300-307.
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen Jr., M.M.1
  • 9
    • 0027522002 scopus 로고
    • Skeletal abnormalities in the Apert syndrome
    • Cohen MM Jr, Kreiborg S. 1993. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 47:624-632.
    • (1993) Am J Med Genet , vol.47 , pp. 624-632
    • Cohen Jr, M.M.1    Kreiborg, S.2
  • 11
    • 0022000935 scopus 로고
    • Tarsal and carpal coalition and symphalangism of the Fuhrmann type: Report of a family
    • Drawbert JP, Stevens DB, Cadle RG, Hall BD. 1985. Tarsal and carpal coalition and symphalangism of the Fuhrmann type: Report of a family. J Bone Joint Surg A 67:884-889.
    • (1985) J Bone Joint Surg A , vol.67 , pp. 884-889
    • Drawbert, J.P.1    Stevens, D.B.2    Cadle, R.G.3    Hall, B.D.4
  • 12
    • 0038449055 scopus 로고
    • Congenital parietal "foramina" associated with faulty ossification of the clavicles
    • Eckstein HB, Hoare RD. 1963. Congenital parietal "foramina" associated with faulty ossification of the clavicles. Br J Radiol 36:220-221.
    • (1963) Br J Radiol , vol.36 , pp. 220-221
    • Eckstein, H.B.1    Hoare, R.D.2
  • 13
    • 0034963476 scopus 로고    scopus 로고
    • A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia
    • Faivre L, Cormier-Daire V, Genevieve D, Pinto G, Goulet O, Munnich A, Maroteaux P, Le Merrer M. 2001. A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Clin Dysmorph 10:181-184.
    • (2001) Clin Dysmorph , vol.10 , pp. 181-184
    • Faivre, L.1    Cormier-Daire, V.2    Genevieve, D.3    Pinto, G.4    Goulet, O.5    Munnich, A.6    Maroteaux, P.7    Le Merrer, M.8
  • 14
    • 84980115441 scopus 로고
    • Humero-radial synostosis
    • Frankel E. 1942. Humero-radial synostosis. Brit J Surg 31:242-245.
    • (1942) Brit J Surg , vol.31 , pp. 242-245
    • Frankel, E.1
  • 16
    • 0028297785 scopus 로고
    • Ear anomalies, clefting and limb reduction defects: A new autosomal recessive condition?
    • Glass IA, Walford-Moore J, Chapman S, Farndon PA. 1994. Ear anomalies, clefting and limb reduction defects: A new autosomal recessive condition? Clin Dysmorphol 3:150-156.
    • (1994) Clin Dysmorphol , vol.3 , pp. 150-156
    • Glass, I.A.1    Walford-Moore, J.2    Chapman, S.3    Farndon, P.A.4
  • 17
    • 0016215357 scopus 로고
    • Symphalangism and brachydactyly syndrome: Report of the WL symphalangism-brachydactyly syndrome: Review of literature and classification
    • Herrmann J. 1974. Symphalangism and brachydactyly syndrome: Report of the WL symphalangism-brachydactyly syndrome: Review of literature and classification. Birth Defects OAS 10:23-53.
    • (1974) Birth Defects OAS , vol.10 , pp. 23-53
    • Herrmann, J.1
  • 18
    • 0024334880 scopus 로고
    • Humero-radio-ulnar synostosis: A new case and review
    • Hersh JH, Joyce MR, Profumo LE. 1989. Humero-radio-ulnar synostosis: A new case and review. Am J Med Genet 33:170-171.
    • (1989) Am J Med Genet , vol.33 , pp. 170-171
    • Hersh, J.H.1    Joyce, M.R.2    Profumo, L.E.3
  • 19
    • 3342986374 scopus 로고    scopus 로고
    • Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
    • Hing AV, Syed N, Cunningham ML. 2004. Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance. Am J Med Genet Part A 128A:374-382.
    • (2004) Am J Med Genet , vol.128 A , Issue.PART A , pp. 374-382
    • Hing, A.V.1    Syed, N.2    Cunningham, M.L.3
  • 20
    • 0020389685 scopus 로고
    • Monozygotic twins discordant for an undiagnosed skeletal dysplasia
    • Hughes HE, Bandler E, MacLeod PM. 1982. Monozygotic twins discordant for an undiagnosed skeletal dysplasia. Prog Clin Biol Res 104:259-268.
    • (1982) Prog Clin Biol Res , vol.104 , pp. 259-268
    • Hughes, H.E.1    Bandler, E.2    MacLeod, P.M.3
  • 21
    • 0017170866 scopus 로고
    • The genetics of and associated clinical findings in humero-radial synostosis
    • Hunter AG, Cox DW, Rudd NL. 1976. The genetics of and associated clinical findings in humero-radial synostosis. Clin Genet 9:470-478.
    • (1976) Clin Genet , vol.9 , pp. 470-478
    • Hunter, A.G.1    Cox, D.W.2    Rudd, N.L.3
  • 22
    • 0019176298 scopus 로고
    • Autosomal recessive microcephaly and micromelia in Cree Indians
    • Ives EJ, Houston CS. 1980. Autosomal recessive microcephaly and micromelia in Cree Indians. Am J Med Genet 7:351-360.
    • (1980) Am J Med Genet , vol.7 , pp. 351-360
    • Ives, E.J.1    Houston, C.S.2
  • 23
    • 0032939016 scopus 로고    scopus 로고
    • Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome
    • Kantaputra PN, Mongkolchaisup S. 1999. Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome. Clin Dysmorphol 8:123-127.
    • (1999) Clin Dysmorphol , vol.8 , pp. 123-127
    • Kantaputra, P.N.1    Mongkolchaisup, S.2
  • 24
    • 0017240335 scopus 로고
    • Symphalangism with metacarpophalangeal fusions and elbow abnormalities
    • Kassner EG, Katz I, Qazi QH. 1976. Symphalangism with metacarpophalangeal fusions and elbow abnormalities. Pediatr Radiol 4:103-107.
    • (1976) Pediatr Radiol , vol.4 , pp. 103-107
    • Kassner, E.G.1    Katz, I.2    Qazi, Q.H.3
  • 25
    • 0014911469 scopus 로고
    • Eine wahrscheinlich autosomal recessive vererbte Skeletmissbildung mit Humeroradialsynostose
    • Keutel J, Kindermann I, Mockel H. 1970. Eine wahrscheinlich autosomal recessive vererbte Skeletmissbildung mit Humeroradialsynostose. Humangenetik 9:43-53.
    • (1970) Humangenetik , vol.9 , pp. 43-53
    • Keutel, J.1    Kindermann, I.2    Mockel, H.3
  • 26
    • 0030027109 scopus 로고    scopus 로고
    • Antley-Bixler syndrome: A disorder characterized by congenital synostosis of the elbow joint and the cranial suture
    • Kitoh H, Nogami H, Oki T, Arao K, Nagasaka M, Tanaka Y, Kitoh H. 1996. Antley-Bixler syndrome: A disorder characterized by congenital synostosis of the elbow joint and the cranial suture. J Pediatr Orthopaed 16:243-246.
    • (1996) J Pediatr Orthopaed , vol.16 , pp. 243-246
    • Kitoh, H.1    Nogami, H.2    Oki, T.3    Arao, K.4    Nagasaka, M.5    Tanaka, Y.6    Kitoh, H.7
  • 27
    • 0027314367 scopus 로고
    • FFU complex: An analysis of 491 cases
    • Lenz W, Zygulska M, Horst J. 1993. FFU complex: An analysis of 491 cases. Hum Genet 91:347-356.
    • (1993) Hum Genet , vol.91 , pp. 347-356
    • Lenz, W.1    Zygulska, M.2    Horst, J.3
  • 28
    • 0025307712 scopus 로고
    • Hereditary cranium bifidum and symmetric parietal foramina are the same entity
    • Little BB, Knoll KA, Klein VR, Heller KB. 1990. Hereditary cranium bifidum and symmetric parietal foramina are the same entity. Am J Med Genet 35:453-458.
    • (1990) Am J Med Genet , vol.35 , pp. 453-458
    • Little, B.B.1    Knoll, K.A.2    Klein, V.R.3    Heller, K.B.4
  • 29
    • 85120515409 scopus 로고    scopus 로고
    • Lorenz P, Rupprecht E, Tellkamp H. 1990. An unusual type of acrocephalosyndactyly with bilateral parietooccipital Encephalocele, micropenis, and severe mental retardation. Am J Med Genet 36:265-268.
    • Lorenz P, Rupprecht E, Tellkamp H. 1990. An unusual type of acrocephalosyndactyly with bilateral parietooccipital "Encephalocele," micropenis, and severe mental retardation. Am J Med Genet 36:265-268.
  • 30
    • 0037216742 scopus 로고    scopus 로고
    • Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure
    • Marles SL, Reed M, Evans JA. 2003. Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. Am J Med Genet Part A 116A:85-89.
    • (2003) Am J Med Genet , vol.116 A , Issue.PART A , pp. 85-89
    • Marles, S.L.1    Reed, M.2    Evans, J.A.3
  • 34
    • 0023868620 scopus 로고
    • The Tel Hashomer Camptodactyly Syndrome: Report of a new case and review of the literature
    • Pagnan NA, Gollop TR, Lederman H. 1988. The Tel Hashomer Camptodactyly Syndrome: Report of a new case and review of the literature. Am J Med Genet 29:411-417.
    • (1988) Am J Med Genet , vol.29 , pp. 411-417
    • Pagnan, N.A.1    Gollop, T.R.2    Lederman, H.3
  • 36
    • 0029878404 scopus 로고    scopus 로고
    • Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
    • Potocki L, Shaffer LG. 1996. Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 62:319-325.
    • (1996) Am J Med Genet , vol.62 , pp. 319-325
    • Potocki, L.1    Shaffer, L.G.2
  • 37
    • 0024382875 scopus 로고
    • Humero-radial synostosis with ulnar defects in sibs
    • Ramer JC, Ladda RL. 1989. Humero-radial synostosis with ulnar defects in sibs. Am J Med Genet 33:176-179.
    • (1989) Am J Med Genet , vol.33 , pp. 176-179
    • Ramer, J.C.1    Ladda, R.L.2
  • 38
    • 33847346280 scopus 로고
    • Humeroradial/multiple synostosis syndrome in a Brazilian child with consanguineous parents. A new multiple synostosis syndrome?
    • Richieri-Costa A, Pagnan NAB. 1986. Humeroradial/multiple synostosis syndrome in a Brazilian child with consanguineous parents. A new multiple synostosis syndrome? Rev Brasil Genet 9:115-122.
    • (1986) Rev Brasil Genet , vol.9 , pp. 115-122
    • Richieri-Costa, A.1    Pagnan, N.A.B.2
  • 40
    • 0029985649 scopus 로고    scopus 로고
    • Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report
    • Sahoo MM, Misra PK, Samal BK. 1996. Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report. Int Orthop 20:117-118.
    • (1996) Int Orthop , vol.20 , pp. 117-118
    • Sahoo, M.M.1    Misra, P.K.2    Samal, B.K.3
  • 41
    • 0030058202 scopus 로고    scopus 로고
    • Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?
    • Samson G, Gardner JC. 1996. Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?. Am J Med Genet 61:174-177.
    • (1996) Am J Med Genet , vol.61 , pp. 174-177
    • Samson, G.1    Gardner, J.C.2
  • 42
    • 0018836413 scopus 로고
    • A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation
    • Schinzel A. 1980. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. Helv Paediatr Acta 35:243-251.
    • (1980) Helv Paediatr Acta , vol.35 , pp. 243-251
    • Schinzel, A.1
  • 43
    • 0023820750 scopus 로고
    • A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias
    • Schumacher KA, Wolf M, Friedrich JM. 1988. A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias. Rontgenblatter 41:211-214.
    • (1988) Rontgenblatter , vol.41 , pp. 211-214
    • Schumacher, K.A.1    Wolf, M.2    Friedrich, J.M.3
  • 45
    • 0027394225 scopus 로고
    • Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
    • Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. 1993. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet 45:581-583.
    • (1993) Am J Med Genet , vol.45 , pp. 581-583
    • Shaffer, L.G.1    Hecht, J.T.2    Ledbetter, D.H.3    Greenberg, F.4
  • 47
    • 0001271060 scopus 로고
    • Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino P.G.A.) administered by the oral route
    • Thiersch JB. 1952. Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino P.G.A.) administered by the oral route. Am J Obstet Gynec 63:1298-1304.
    • (1952) Am J Obstet Gynec , vol.63 , pp. 1298-1304
    • Thiersch, J.B.1
  • 48
    • 0021347101 scopus 로고
    • New syndrome: Renal dysplasia, mesomelia, and radiohumeral fusion
    • Ulbright CE, Hodes ME, Ulbright TM. 1984. New syndrome: Renal dysplasia, mesomelia, and radiohumeral fusion. Am J Med Genet 17:667-668.
    • (1984) Am J Med Genet , vol.17 , pp. 667-668
    • Ulbright, C.E.1    Hodes, M.E.2    Ulbright, T.M.3
  • 49
    • 0027429318 scopus 로고
    • Roberts syndrome: A review of 100 cases and a new rating system for severity
    • Van Den Berg DJ, Francke U. 1993. Roberts syndrome: A review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104-1123.
    • (1993) Am J Med Genet , vol.47 , pp. 1104-1123
    • Van Den Berg, D.J.1    Francke, U.2
  • 50
    • 0020416035 scopus 로고
    • Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency
    • Van Gelderen HH. 1982. Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency. Am J Med Genet 13:383-387.
    • (1982) Am J Med Genet , vol.13 , pp. 383-387
    • Van Gelderen, H.H.1
  • 51
    • 0026598703 scopus 로고
    • Acromelic frontonasal 'dysplasia': Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
    • Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. 1992. Acromelic frontonasal 'dysplasia': Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). Am J Med Genet 42:180-183.
    • (1992) Am J Med Genet , vol.42 , pp. 180-183
    • Verloes, A.1    Gillerot, Y.2    Walczak, E.3    Van Maldergem, L.4    Koulischer, L.5
  • 54
    • 0034530307 scopus 로고    scopus 로고
    • The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna. OMIM 168500)
    • Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W. 2000b. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna. OMIM 168500). J Med Genet 37:916-920.
    • (2000) J Med Genet , vol.37 , pp. 916-920
    • Wuyts, W.1    Cleiren, E.2    Homfray, T.3    Rasore-Quartino, A.4    Vanhoenacker, F.5    Van Hul, W.6
  • 55
    • 0022140904 scopus 로고
    • Parietal foramina in the Saethre-Chotzen syndrome
    • Young ID, Swift PG. 1985. Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 22:413-414.
    • (1985) J Med Genet , vol.22 , pp. 413-414
    • Young, I.D.1    Swift, P.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.