255 related articles for article (PubMed ID: 2596519)
1. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
Koppe R; Kaplan P; Hunter A; MacMurray B
Am J Med Genet; 1989 Nov; 34(3):305-12. PubMed ID: 2596519
[TBL] [Abstract][Full Text] [Related]
2. Cutis laxa in Kabuki make-up syndrome.
Vaccaro M; Salpietro DC; Briuglia S; Merlino MV; Guarneri F; Dallapiccola B
J Am Acad Dermatol; 2005 Nov; 53(5 Suppl 1):S247-51. PubMed ID: 16227101
[TBL] [Abstract][Full Text] [Related]
3. New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.
Borochowitz Z; Pavone L; Mazor G; Rizzo R; Dar H
Am J Med Genet; 1992 Jul; 43(4):678-85. PubMed ID: 1621757
[TBL] [Abstract][Full Text] [Related]
4. [Congenital generalized cutis laxa: 5 cases].
Rybojad M; Baumann C; Godeau G; Moraillon I; Prigent F; Morel P; Bourrat E
Ann Dermatol Venereol; 1999 Apr; 126(4):317-9. PubMed ID: 10421933
[TBL] [Abstract][Full Text] [Related]
5. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.
Fryns JP; Vogels A; Haegeman J; Eggermont E; van den Berghe H
Genet Couns; 1994; 5(4):337-43. PubMed ID: 7888135
[TBL] [Abstract][Full Text] [Related]
6. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
Schinzel A; Giedion A
Am J Med Genet; 1978; 1(4):361-75. PubMed ID: 665725
[TBL] [Abstract][Full Text] [Related]
7. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RA
Eur J Hum Genet; 2008 Jan; 16(1):28-35. PubMed ID: 17971833
[TBL] [Abstract][Full Text] [Related]
8. Sotos syndrome and cutis laxa.
Robertson SP; Bankier A
J Med Genet; 1999 Jan; 36(1):51-6. PubMed ID: 9950366
[TBL] [Abstract][Full Text] [Related]
9. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
Thomas JA; Manchester DK; Prescott KE; Milner R; McGavran L; Cohen MM
Am J Med Genet; 1996 Apr; 62(4):372-5. PubMed ID: 8723067
[TBL] [Abstract][Full Text] [Related]
10. Undiagnosed syndrome of psychomotor retardation, low birthweight dwarfism, skeletal, dental, dermal and genital anomalies.
Elliott DE
Birth Defects Orig Artic Ser; 1975; 11(2):364-7. PubMed ID: 1241660
[No Abstract] [Full Text] [Related]
11. [Costello syndrome. Presentation of a case with a follow-up of 35 years].
Pascual-Castroviejo I; Pascual-Pascual S
Neurologia; 2005 Apr; 20(3):144-8. PubMed ID: 15815950
[TBL] [Abstract][Full Text] [Related]
12. Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.
Chitayat D; Hall JG; Couch RM; Phang MS; Baldwin VJ
Am J Med Genet; 1990 Sep; 37(1):65-70. PubMed ID: 2240046
[TBL] [Abstract][Full Text] [Related]
13. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.
Brooks SS; Wisniewski K; Brown WT
Am J Med Genet; 1994 Jul; 51(4):586-90. PubMed ID: 7943044
[TBL] [Abstract][Full Text] [Related]
14. Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot.
Holmes LB; Gang DL
Am J Med Genet; 1984 Jan; 17(1):375-82. PubMed ID: 6711605
[TBL] [Abstract][Full Text] [Related]
15. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C; Funke S; Knoers NV; Jira P; Wevers RA; Urban Z; Morava E
Acta Paediatr; 2009 Mar; 98(3):490-4. PubMed ID: 19055655
[TBL] [Abstract][Full Text] [Related]
16. Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.
Fryns JP; Dereymaeker A; Hoefnagels M; Van den Berghe H
Am J Med Genet; 1987 Mar; 26(3):551-5. PubMed ID: 3565469
[TBL] [Abstract][Full Text] [Related]
17. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Hennekam RC; Geerdink RA; Hamel BC; Hennekam FA; Kraus P; Rammeloo JA; Tillemans AA
Am J Med Genet; 1989 Dec; 34(4):593-600. PubMed ID: 2624276
[TBL] [Abstract][Full Text] [Related]
18. Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?
Bindewald B; Ulmer H; Müller U
Am J Med Genet; 1994 Apr; 50(2):173-6. PubMed ID: 8010348
[TBL] [Abstract][Full Text] [Related]
19. Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome.
Beemer FA; von Ertbruggen I
Am J Med Genet; 1984 Oct; 19(2):391-4. PubMed ID: 6507485
[No Abstract] [Full Text] [Related]
20. Congenital cutis laxa syndrome: type II autosomal recessive inheritance.
Tüysüz B; Arapoğlu M; Ilikkan B; Demirkesen C; Perk Y
Turk J Pediatr; 2003; 45(3):265-8. PubMed ID: 14696810
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]