Finlay-Marks syndrome: Report of two siblings and review of literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1696-1701

  Naik, Prashant ^a   Kini, Pushpa ^a   Chopra, Deepti ^a   Gupta, Yogesh ^a  

^a KASTURBA MEDICAL COLLEGE   (India)

Author keywords

Abnormal ears; Amastia; Aplasia cutis congenita; Ectodermal dysplasia; Renal agenesis

Indexed keywords

ALOPECIA; ARTICLE; ATHELIA; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CAUSE OF DEATH; CHILD; CLINICAL FEATURE; EAR MALFORMATION; FEMALE; FINLAY MARKS SYNDROME; HUMAN; KIDNEY AGENESIS; KIDNEY FAILURE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCALP DEFECT; SKIN APLASIA; SKIN DEFECT; SKIN MALFORMATION; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EAR, EXTERNAL; FATAL OUTCOME; FEMALE; HUMANS; HYPOSPADIAS; INFANT; KARYOTYPE; MALE; MUSCLE HYPOTONIA; NIPPLES; PHENOTYPE; SCALP; SIBLINGS;

EID: 84862686141     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35389     Document Type: Article

References (37)

1. Aase JM, Wilroy SR. 1988. The Finlay-Marks (SEN) syndrome: Report of a new case and review of the literature. Proc Greenwood Genet Center 7: 177- 178.
2. Alcón Saez JJ, Elía Martínez MA, Elía Martínez I, Pont Colomer M, Lurbe Ferrer E. 2008. [Amastia and athelia as an exceptional presentation of hypohydrotic ectodermal dysplasia in an adolescent female.] [Article in Spanish] An Pediatr (Barc) 69: 289- 290.
3. Al-Gazali L, Nath R, Iram D, Al Malik H. 2007. Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family. Clin Dysmorphol 16: 105- 107.
4. Aranibar L, Lay-son G, Sanz P, Castillo S. 2005. [Hypohydrotic ectodermal dysplasia, a clinical case and review of the literature] [Article in Spanish] Rev Chil Pediatr 76: 166- 172.
5. Ausavarat S, Tongkobpetch S, Praphanphoj V, Mahatumarat C, Rojvachiranonda N, Snabboon T, Markello TC, Gahl WA, Suphapeetiporn K, Shotelersuk V. 2011. PTPRF is disrupted in a patient with syndromic amastia. BMC Med Genet 12: 46.
6. Baris H, Tan WH, Kimonis VE. 2005. Hypothelia, syndactyly, and ear malformation- A variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. Am J Med Genet Part A 134A: 220- 222.
7. Breslau-Siderius EJ, Toonstra J, Baart JA, Koppeschaar HP, Maassen JA, Beemer FA. 1992. Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: A second case of the AREDYLD syndrome. Am J Med Genet 44: 374- 377.
8. Burck U, Held KR. 1981. Athelia in a female infant-Heterozygous for anhidrotic ectodermal dysplasia. Clin Genet 19: 117- 121.
9. Edwards MJ, McDonald D, Moore P, Rae J. 1994. Scalp-ear-nipple syndrome: Additional manifestations. Am J Med Genet 50: 247- 250.
10. Finlay AY, Marks R. 1978. An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. Br J Dermatol 99: 423- 430.
11. Frieden IJ. 1986. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 14: 646- 660.
12. Froriep L. 1839. Beobachtung eines falles von Mangel der brustdrüse. Notizen aus dem Gebiete der Natur und Heilkunst 1: 9- 16.
13. Gilly E. 1882. Absence complete des mamelles chez une femme mere: Atrophie de membre superieur droit. Courrier Med 32: 27- 28.
14. Goldenring H, Crelin ES. 1961. Mother and daughter with bilateral congenital amastia. Yale J Biol Med 33: 466- 467.
15. Heckmann U. 1982. [Congenital bilateral amastia in a mother and a daughter] [Article in German]. Geburtshilfe Frauenheilkd 42: 318- 320.
16. Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ. 1998. Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome. Am J Med Genet 80: 335- 342.
17. Iamin MT, Kumar VP. 2003. Complete absence of breasts in a 24-year-old woman associated with ectodermal dysplasia. Plast Reconstr Surg 111: 959- 961.
18. Ishida LH, Alves HR, Munhoz AM, Kaimoto C, Ishida LC, Saito FL, Gemperlli R, Ferreira MC. 2005. Athelia: Case report and review of the literature. Br J Plast Surg 58: 833- 837.
19. Klinger M, Caviggioli F, Banzatti B, Fossati C, Villani F. 2009. Ectodermal dysplasia with amastia: A case of one-step reconstruction. Case Report Med 2009: 927354.
20. Le Merrer M, Renier D, Briard ML. 1991. Scalp defect, nipples absence and ears abnormalities: Another case of Finlay syndrome. Genet Counseling 2: 233- 236.
21. Lin KY, Nguyen DB, Williams RM. 2000. Complete breast absence revisited. Plast Reconstr Surg 106: 98- 101.
22. Paik YS, Chang CW. 2010. Stahl ear deformity associated with Finlay-Marks syndrome. Ear Nose Throat J 89: 256- 257.
23. Picard C, Couderc S, Skojaei T, Salomon R, de Lonlay P, Le Merrer M, Munnich A, Lyonnet S, Amiel J. 1999. Scalp-ear-nipple (Finlay-Marks) syndrome: A familial case with renal involvement. Clin Genet 56: 170- 172.
24. Pinheiro M, Pereira LC, Freire-Maia N. 1981. A previously undescribed condition: tricho-odonto-onycho-dermal syndrome: A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias. Br J Dermatol 105: 371- 382.
25. Pinheiro M, Freire-Maia N, Chautard-Freire-Maia EA, Araujo LM, Liberman B. 1983. AREDYLD: A syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. Am J Med Genet 16: 29- 33.
26. Plessis G, Le Treust M, Le Merrer M. 1997. Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: Another case of Finlay-Marks syndrome. Clin Genet 52: 231- 234.
27. Rich MA, Heimler A, Waber L, Brock WA. 1987. Autosomal dominant transmission of ureteral triplication and bilateral amastia. J Urol 137: 102- 105.
28. Sobreira NL, Brunoni D, Cernach MC, Perez AB. 2006. Finlay-Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome. Am J Med Genet Part A 140A: 300- 302.
29. Steinberg RD, Ethington J, Esterly NB. 1990. Lumpy scalp syndrome. Int J Dermatol 29: 657- 658.
30. Taniai H, Chen H, Ursin S. 2004. Finlay-Marks Syndrome. Another sporadic case and additional manifestations. Pediatr Int 46: 353- 355.
31. Trier WC. 1965. Complete breast absence. Case report and review of the literature. Plast Reconstr Surg 36: 431- 439.
32. Triolo O, Allegra A, Stella Brienza L, De Meo A, Tropea G. 1993. [Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case.] [Article in Italian] Minerva Ginecol 45: 139- 142.
33. Tsakalakos N, Jordaan FH, Taljaard JJ, Hough SF. 1986. A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. Arch Dermatol 122: 1047- 1053.
34. Tuffli GA, Laxova R. 1983. New, autosomal dominant form of ectodermal dysplasia. Am J Med Genet 14: 381- 384.
35. van Steensel MA, Celli J, van Bokhoven JH, Brunner HG. 1999. Probing the gene expression database for candidate genes. Eur J Hum Genet 7: 910- 919.
36. Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. 2009. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet Part A 149A: 1980- 2002.
37. Zeffiri A, Ottaviani M, Isoldi M, Stagi S, Di Medio L, Levi M, Carosi L, Giunti L, Ricci U, Giovannucci Uzielli ML. 2006. FINLAY-MARKS Syndrome: Thirty Year Follow-up in the affected one of two dizygotic twins. Poster Abstract. Programme number 653 for Am Soc Hum Genet Ann Meeting.