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2. 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 [Abstract] [Full Text] [Related]
3. Idiopathic hypercalcaemia of infancy. The elfin face syndrome. Dupont B, Dupont A, Bliddal J, Holst E, Melchior JC, Ottesen OE. Dan Med Bull; 1970 Feb; 17(2):33-46. PubMed ID: 5446367 [No Abstract] [Full Text] [Related]
4. [Cystinuria-lysinuria with dwarfism, facial dysmorphy, muscle hypoplasia and psychomotor retardation]. See G, Lejeune J, Dayras JC, Raoul. Ann Pediatr (Paris); 1970 Nov 02; 17(11):846-52. PubMed ID: 5484626 [No Abstract] [Full Text] [Related]
5. [The XYY status in children]. Keutel J, Dauner I. Z Kinderheilkd; 1969 Nov 02; 106(4):314-32. PubMed ID: 4980303 [No Abstract] [Full Text] [Related]
6. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Herrmann J, Pallister PD, Tiddy W, Opitz JM. Birth Defects Orig Artic Ser; 1975 Nov 02; 11(5):7-18. PubMed ID: 1218237 [No Abstract] [Full Text] [Related]
7. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? Fryns JP, Moerman P. J Med Genet; 1993 Apr 02; 30(4):322-4. PubMed ID: 8487282 [Abstract] [Full Text] [Related]
8. 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 02; 19(2):391-4. PubMed ID: 6507485 [No Abstract] [Full Text] [Related]
9. New syndrome of skeletal, dental and hair anomalies. Sensenbrenner JA, Dorst JP, Owens RP. Birth Defects Orig Artic Ser; 1975 Oct 02; 11(2):372-9. PubMed ID: 1227553 [Abstract] [Full Text] [Related]
10. [Additional anomalies in 2 children with the VACTERL association]. Arrigo T, Pandullo E, Tedeschi A, Sindoni A, Manganaro R, De Luca F. Minerva Pediatr; 1984 Jul 31; 36(13-14):713-8. PubMed ID: 6150426 [No Abstract] [Full Text] [Related]
14. [Rubinstein-Taybi syndrome. Apropos of 2 new cases]. Legrand J, Maurat JC. Arch Ophtalmol Rev Gen Ophtalmol; 1973 Oct 31; 33(10):641-60. PubMed ID: 4151444 [No Abstract] [Full Text] [Related]
15. Cranioectodermal dysplasia. Gellis S, Feingold M, Dubner D. Am J Dis Child; 1979 Dec 31; 133(12):1275-6. PubMed ID: 517478 [No Abstract] [Full Text] [Related]
16. [Rubinstein-Taybi syndrome (a propos of 4 cases)]. Levy-Leblond E, D'Oelsnitz M, Vaillant JM, Maroteaux P. Arch Fr Pediatr; 1969 May 31; 26(5):523-35. PubMed ID: 5363526 [No Abstract] [Full Text] [Related]
17. [Goltz syndrome. Presentation of 2 cases]. Pascual-Castroviejo I, Luengo dos Santos A, Baguero Paret G. An Esp Pediatr; 1982 Jun 31; 16(6):524-6. PubMed ID: 7125405 [No Abstract] [Full Text] [Related]
18. [The fetal face syndrome or Robinow syndrome. Description of a case (clinical and immunological aspects)]. Marni E, Monafo V, Zanol MG, Pedroni E. Minerva Pediatr; 1980 Jan 15; 32(1):47-52. PubMed ID: 7254142 [No Abstract] [Full Text] [Related]
19. 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 01; 43(4):678-85. PubMed ID: 1621757 [Abstract] [Full Text] [Related]
20. Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development. MacDermot KD, Winter RM. Am J Med Genet; 1989 Jan 01; 32(1):60-2. PubMed ID: 2705483 [Abstract] [Full Text] [Related] Page: [Next] [New Search]