-
1
-
-
0027536001
-
Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome)
-
Abu-Libdeh B, Fujimoto A, Ehinger M (1993). Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). Am J Med Genet 45:358-360.
-
(1993)
Am J Med Genet
, vol.45
, pp. 358-360
-
-
Abu-Libdeh, B.1
Fujimoto, A.2
Ehinger, M.3
-
2
-
-
0023794395
-
Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: A distinct autosomal recessive syndrome?
-
Al-Gazali LI, Donnai D, Mueller RF (1988). Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? J Med Genet 25:758-761.
-
(1988)
J Med Genet
, vol.25
, pp. 758-761
-
-
Al-Gazali, L.I.1
Donnai, D.2
Mueller, R.F.3
-
3
-
-
0028155872
-
Adams Oliver syndrome: A family with extreme variability in clinical expression
-
Bamforth JS, Kaurah P, Byrne J, Ferreira P (1994). Adams Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet 49:393-396.
-
(1994)
Am J Med Genet
, vol.49
, pp. 393-396
-
-
Bamforth, J.S.1
Kaurah, P.2
Byrne, J.3
Ferreira, P.4
-
4
-
-
0015613371
-
Mackinder's hereditary brachydactyly: Phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family
-
Battle HI, Walker NF, Thompson MW (1973). Mackinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family. Ann Hum Genet 36:415-424.
-
(1973)
Ann Hum Genet
, vol.36
, pp. 415-424
-
-
Battle, H.I.1
Walker, N.F.2
Thompson, M.W.3
-
5
-
-
0009588810
-
Cervical kyphosis from posterior hemivertebrae with brachyphalangy and congenital optic atrophy
-
Berk ME, Tabatznik B (1961). Cervical kyphosis from posterior hemivertebrae with brachyphalangy and congenital optic atrophy. J Bone Jt Surg 43:77-86.
-
(1961)
J Bone Jt Surg
, vol.43
, pp. 77-86
-
-
Berk, M.E.1
Tabatznik, B.2
-
6
-
-
0028256075
-
DOOR syndrome: Additional case and literature review
-
Bos CJM, Ippel PF, Beemer FA (1994). DOOR syndrome: additional case and literature review. Clin Dysmorphol 3:15-20.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 15-20
-
-
Bos, C.J.M.1
Ippel, P.F.2
Beemer, F.A.3
-
7
-
-
0025834804
-
Robin sequence with facial and digital anomalies in two half-brothers by the same mother
-
Chitayat D, Meunier CM, Hodgkinson KA, Azouz ME (1991). Robin sequence with facial and digital anomalies in two half-brothers by the same mother. Am J Med Genet 40:167-172.
-
(1991)
Am J Med Genet
, vol.40
, pp. 167-172
-
-
Chitayat, D.1
Meunier, C.M.2
Hodgkinson, K.A.3
Azouz, M.E.4
-
8
-
-
0014783843
-
Menial retardation with absent fifth fingernail and terminal phalanx
-
Coffin GS, Siris E (1970). Menial retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433-439.
-
(1970)
Am J Dis Child
, vol.119
, pp. 433-439
-
-
Coffin, G.S.1
Siris, E.2
-
9
-
-
0021970380
-
A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
-
Cooks RG, Hertz M, Katznelson MBM, Goodman RM (1985). A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 27:85-91.
-
(1985)
Clin Genet
, vol.27
, pp. 85-91
-
-
Cooks, R.G.1
Hertz, M.2
Katznelson, M.B.M.3
Goodman, R.M.4
-
10
-
-
0018409706
-
Classification and identification of inherited brachydactylies
-
Fitch N (1979). Classification and identification of inherited brachydactylies. J Med Genet 16:36-44.
-
(1979)
J Med Genet
, vol.16
, pp. 36-44
-
-
Fitch, N.1
-
11
-
-
0023202062
-
Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
-
Fryns JP (1987). Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 24:271-274.
-
(1987)
J Med Genet
, vol.24
, pp. 271-274
-
-
Fryns, J.P.1
-
12
-
-
0030452946
-
Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media
-
Fryns JP, Legius E, Demaerel Ph, van den Berghe H (1996). Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Clin Genet 50:505-509.
-
(1996)
Clin Genet
, vol.50
, pp. 505-509
-
-
Fryns, J.P.1
Legius, E.2
Demaerel, Ph.3
Van den Berghe, H.4
-
13
-
-
0033073979
-
Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
-
Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML (1999). Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet 64:570-577.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 570-577
-
-
Gong, Y.1
Chitayat, D.2
Kerr, B.3
Chen, T.4
Babul-Hirji, R.5
Pal, A.6
Reiss, M.7
Warman, M.L.8
-
14
-
-
0016215357
-
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. BDOAS X:23-53.
-
(1974)
BDOAS
, vol.10
, pp. 23-53
-
-
Herrmann, J.1
-
15
-
-
0028001613
-
Characteristic facies in type B brachydactyly?
-
Houlston RS, Temple IK (1994). Characteristic facies in type B brachydactyly? Clin Dysmorphol 3:224-227.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 224-227
-
-
Houlston, R.S.1
Temple, I.K.2
-
16
-
-
0026662321
-
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: Confirmation of the Gorlin-Chaudhry-Moss syndrome
-
Ippel PF, Gorlin RJ, Lenz W, van Doorne JM, Bijlsma JB (1992). Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: Confirmation of the Gorlin-Chaudhry-Moss syndrome. Am J Med Genet 44:518-522.
-
(1992)
Am J Med Genet
, vol.44
, pp. 518-522
-
-
Ippel, P.F.1
Gorlin, R.J.2
Lenz, W.3
Van Doorne, J.M.4
Bijlsma, J.B.5
-
17
-
-
0023833156
-
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - McKusick 10030): Further suggestion of autosomal recessive inheritance
-
Koiffmann CP, Wajntal A, Huyke BJ, Castro RM (1988). Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - McKusick 10030): Further suggestion of autosomal recessive inheritance. Am J Med Genet 29:263-268.
-
(1988)
Am J Med Genet
, vol.29
, pp. 263-268
-
-
Koiffmann, C.P.1
Wajntal, A.2
Huyke, B.J.3
Castro, R.M.4
-
18
-
-
0022535431
-
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
-
Kumar D, Levick RK (1986). Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet 30:219-225.
-
(1986)
Clin Genet
, vol.30
, pp. 219-225
-
-
Kumar, D.1
Levick, R.K.2
-
19
-
-
0025755713
-
Coffin-Siris syndrome
-
Levy P, Baraitser M (1991). Coffin-Siris syndrome. J Med Genet 28:338-341.
-
(1991)
J Med Genet
, vol.28
, pp. 338-341
-
-
Levy, P.1
Baraitser, M.2
-
21
-
-
0028909440
-
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: A new autosomal dominant disorder
-
Martinez-Frias ML, Martin M, Pardo M, Fernandez de las Heras K, Frias JL (1995). Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. Am J Med Genet 55:213-216.
-
(1995)
Am J Med Genet
, vol.55
, pp. 213-216
-
-
Martinez-Frias, M.L.1
Martin, M.2
Pardo, M.3
Fernandez de las Heras, K.4
Frias, J.L.5
-
22
-
-
0033069441
-
Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
-
Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AOM (1999). Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am J Hum Genet 64:578-585.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 578-585
-
-
Oldridge, M.1
Temple, I.K.2
Santos, H.G.3
Gibbons, R.J.4
Mustafa, Z.5
Chapman, K.E.6
Loughlin, J.7
Wilkie, A.O.M.8
-
23
-
-
0031985172
-
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
-
Ounap K, Justus I, Lipping-Sitska M (1998). Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clin Dysmorphol 7:45-50.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 45-50
-
-
Ounap, K.1
Justus, I.2
Lipping-Sitska, M.3
-
24
-
-
0021748181
-
Septo-optic dysplasia with digital anomalies
-
Pagon RA, Stephan MJ (1984). Septo-optic dysplasia with digital anomalies. J Pediatr 105:966-968.
-
(1984)
J Pediatr
, vol.105
, pp. 966-968
-
-
Pagon, R.A.1
Stephan, M.J.2
-
25
-
-
0021854061
-
A new brachydactyly syndrome with similarities to Julia Bell types B and E
-
Pitt P, Williams I (1985). A new brachydactyly syndrome with similarities to Julia Bell types B and E. J Med Genet 22:202-204.
-
(1985)
J Med Genet
, vol.22
, pp. 202-204
-
-
Pitt, P.1
Williams, I.2
-
26
-
-
0015177864
-
Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: A previously unidentified familial disorder with lethal outcome
-
Rüdiger RA, Schmidt W, Loose DA, Passarge E (1971). Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: A previously unidentified familial disorder with lethal outcome. J Pediatr 79:977-981.
-
(1971)
J Pediatr
, vol.79
, pp. 977-981
-
-
Rüdiger, R.A.1
Schmidt, W.2
Loose, D.A.3
Passarge, E.4
-
28
-
-
0017850441
-
Hereditary brachydactyly with nail dysplasia
-
Shotl GD (1978). Hereditary brachydactyly with nail dysplasia. J Med Genet 15:119-122.
-
(1978)
J Med Genet
, vol.15
, pp. 119-122
-
-
Shotl, G.D.1
-
29
-
-
0002326109
-
Congenital coloboma of the macula: Together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet
-
Sorsby A (1935). Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthal 19:65-90.
-
(1935)
Br J Ophthal
, vol.19
, pp. 65-90
-
-
Sorsby, A.1
-
30
-
-
0013656160
-
The genetics of hand malformations
-
Temtamy S, McKusick V (1978). The genetics of hand malformations. BDOAS XIV:pp. 203-205, p. 241, pp. 264-265.
-
(1978)
BDOAS
, vol.14
, pp. 203-205
-
-
Temtamy, S.1
McKusick, V.2
-
31
-
-
0023884205
-
Sorsby syndrome: A report on further generations of the original family
-
Thompson EM, Baraitser M (1988), Sorsby syndrome: a report on further generations of the original family. J Med Genet 25:313-321.
-
(1988)
J Med Genet
, vol.25
, pp. 313-321
-
-
Thompson, E.M.1
Baraitser, M.2
-
32
-
-
0023856210
-
Scalp and limb defects with cutis marmorata telangicctatica congenita: Adams-Oliver syndrome?
-
Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD (1988). Scalp and limb defects with cutis marmorata telangicctatica congenita: Adams-Oliver syndrome? Am J Med Genet 29:269-276.
-
(1988)
Am J Med Genet
, vol.29
, pp. 269-276
-
-
Toriello, H.V.1
Graff, R.G.2
Florentine, M.F.3
Lacina, S.4
Moore, W.D.5
-
33
-
-
0025305697
-
A new syndrome of dwarfism, brachydactyly, nail dysplasia and mental retardation in sibs
-
Tonoki H, Kishino T, Niikawa N (1990). A new syndrome of dwarfism, brachydactyly, nail dysplasia and mental retardation in sibs. Am J Med Gene, 36:89-93.
-
(1990)
Am J Med Gene
, vol.36
, pp. 89-93
-
-
Tonoki, H.1
Kishino, T.2
Niikawa, N.3
-
34
-
-
0017176167
-
Family study of inherited syndrome with multiple congenital deformities: Symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis
-
Ventruto V, Di Girolamo R, Festa B, Romano A, Sebastio G, Sebastio L (1976). Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. J Med Genet 13:394-398.
-
(1976)
J Med Genet
, vol.13
, pp. 394-398
-
-
Ventruto, V.1
Di Girolamo, R.2
Festa, B.3
Romano, A.4
Sebastio, G.5
Sebastio, L.6
-
35
-
-
0027394752
-
Brachymorphism-onychodysplasia-dysphalangism syndrome
-
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L (1993). Brachymorphism-onychodysplasia-dysphalangism syndrome. J Med Genet 30:158-161.
-
(1993)
J Med Genet
, vol.30
, pp. 158-161
-
-
Verloes, A.1
Bonneau, D.2
Guidi, O.3
Berthier, M.4
Oriot, D.5
Van Maldergem, L.6
Koulischer, L.7
-
36
-
-
0016813403
-
Brachydactyly type B and symphalangism in different members of a Mexican family
-
Zavala C, Hernández-Ortíz J, Lisker R (1975). Brachydactyly type B and symphalangism in different members of a Mexican family. Ann Génét 18:131-134.
-
(1975)
Ann Génét
, vol.18
, pp. 131-134
-
-
Zavala, C.1
Hernández-Ortíz, J.2
Lisker, R.3
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