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Items: 1 to 20 of 114

1.

Pfeiffer syndrome: report of a family and review of the literature.

Naveh Y, Friedman A.

J Med Genet. 1976 Aug;13(4):277-80.

2.
3.

Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes.

Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE.

Am J Dis Child. 1971 Mar;121(3):257-62. No abstract available.

PMID:
5551881
5.

Ruvalcaba syndrome: autosomal dominant inheritance.

Sugio Y, Kajii T.

Am J Med Genet. 1984 Dec;19(4):741-53.

PMID:
6517098
6.

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

Friedman JM, Hanson JW, Graham CB, Smith DW.

J Pediatr. 1977 Dec;91(6):929-23.

PMID:
925822
7.

Pitfalls of genetic counselling in Pfeiffer's syndrome.

Baraitser M, Bowen-Bravery M, Saldaña-Garcia P.

J Med Genet. 1980 Aug;17(4):250-6.

8.

Pfeiffer syndrome.

Vogels A, Fryns JP.

Orphanet J Rare Dis. 2006 Jun 1;1:19. Review.

9.

[Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela].

Martínez-Basalo C, Alvarez-Nava F, González-Inciarte ME, González-Inciarte L, Delgado-Luengo W, Mora-La Cruz E, Peña J, Rodríguez B, Gómez-Polo G, Delgado-Luengo J.

Invest Clin. 1997 Jun;38(2):95-106. Spanish.

PMID:
9296644
10.

FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.

Hackett A, Rowe L.

Clin Dysmorphol. 2006 Oct;15(4):207-10.

PMID:
16957473
11.

Pfeiffer's syndrome family tree. Review of the literature.

Lyon JR, Burgess RC.

Clin Orthop Relat Res. 1993 Sep;(294):294-8. Review.

PMID:
8358932
12.

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

Innis JW, Asher JH Jr, Poznanski AK, Sheldon S.

Am J Med Genet. 1997 Aug 8;71(2):150-5.

13.
14.

[Feingold syndrome].

Alessandri JL, Graber D, Tiran-Rajaofera I, Montbrun A, Pilorget H, Samperiz S, Attali T, de Napoli-Cocci S.

Arch Pediatr. 2000 Jun;7(6):637-40. French.

PMID:
10911531
15.

The Summitt syndrome: observations on a third case.

Sells CJ, Hanson JW, Hall JG.

Am J Med Genet. 1979;3(1):27-33.

PMID:
474616
16.

Limb pterygium syndromes: a review and report of eleven patients.

Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.

Am J Med Genet. 1982 Aug;12(4):377-409.

PMID:
7124793
17.

Dominant inheritance of a syndrome similar to Rubinstein-Taybi.

Cotsirilos P, Taylor JC, Matalon R.

Am J Med Genet. 1987 Jan;26(1):85-93.

PMID:
3812583
18.

Familial acrocephalosyndactyly (Pfeiffer syndrome).

Saldino RM, Steinbach HL, Epstein CJ.

Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):609-22. No abstract available.

PMID:
4641185
19.

A case of Pfeiffer syndrome.

Park MS, Yoo JE, Chung J, Yoon SH.

J Korean Med Sci. 2006 Apr;21(2):374-8. Review.

20.

The feet in Pfeiffer's syndrome.

Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD.

J Craniofac Surg. 1998 Jan;9(1):83-7.

PMID:
9558574

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