Erratum: Hypothelia, syndactyly, and ear malformation - A variant of the scalp-ear-nipple syndrome?: Case report and review of the literature (American Journal of Medical Genetics (2005) 134A 220-222) DOI: 10.1002/ajmg.a.30612);Hypothelia, syndactyly, and ear malformation - A variant of the scalp-ear-nipple syndrome? Case report and review of the literature

American Journal of Medical Genetics

Volumn 134 A, Issue 2, 2005, Pages 220-222

  Baris, Hagit ^a   Tan, Wen Hann ^a   Kimonis, Virginia E ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Athelia; Ear malformation; Hypothelia; Syndactyly

Indexed keywords

MEDROXYPROGESTERONE;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; EAR MALFORMATION; FEMALE; FOOT MALFORMATION; HUMAN; HYPOTHELIA; KARYOTYPE; NIPPLE MALFORMATION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RARE DISEASE; REVIEW; SCALP; SCALP EAR NIPPLE SYNDROME; SYNDACTYLY;

ATHELIA;

EID: 15944367714     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30781     Document Type: Erratum

References (22)

1. Al-Gazali LI, Hamid Z, Hertecant J, Bakir M, Nath D, Kakadekar A. 2002. An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, another syndrome and methimazole embryopathy. Clin Dysmorphol 11:79-85.
2. Batchelor HT. 1888. Absence of mammae in a woman. Br Med J 2:876.
3. Burck U, Held KH. 1981. Athelia in a female infant-heterozygous for anhidrotic ectodermal dysplasia. Clin Genet 19:117-121.
4. Dumic M, Cvitanovic M, Saric B, Spehar A, Batinica S. 2002. Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: Report of a case. Am J Med Genet 113:295-297,
5. Edwards MJ, McDonald D, Moore P, Rae J. 1994. Scalp-ear-nipple syndrome: Additional manifestations. Am J Med Genet 50:247-250.
6. Finlay AY, Marks R. 1978. An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. Br J Dermatol 99:423-430.
7. Goldenring H, Crelin ES. 1961. Mother and daughter with bilateral congenital amastia. Yale J Biol Med 33:466-467.
8. Greenberg F. 1987. Choanal atresia and athelia: Methimazole teratogenicity or a new syndrome? Am J Med Genet 28:931-934.
9. Kiskadden WS, Schechtman AM, Brock C. 1949. Theories of the etiology of congenital deformities. Int Abstr Surg 88:1-14.
10. Kowlessar M, Orti E. 1968. Complete breast absence in siblings. Am J Dis Child 115:91-92.
11. Le Merrer M, Renier D, Briard ML. 1991. Scalp defect, nipples absence and ear abnormalities: Another case of Finlay syndrome. Genet Couns 4:233-236.
12. Lin KY, Nguyen DB, Williams RM. 2000. Complete breast absence revisited. Plast Reconstr Surg 106:98-101.
13. 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.
14. 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.
15. Trier WC. 1965. Complete breast absence. Case report and review of the literature. Plast Reconstr Surg 36:431-439.
16. 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.
17. Tuffli GA, Laxova R. 1983. Brief clinical report: New, autosomal dominant form of ectodermal dysplasia. Am J Med Genet 14:381-384.
18. van Genderen C, Okamura RM, Farinas I, Quo RG, Parslow TG, Bruhn L, Grosschedl R. 1994. Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice. Genes Dev 8:2691-2703.
19. 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.
20. Wilson MG, Hall EB, Ebbin AJ. 1972. Dominant inheritance of absence of the breast. Humangenetik 15:268-270.
21. Wilson LC, Kerr BA, Wilkinson R, Fossard C, Donnai D. 1998. Choanal atresia and hypothelia following methimazole exposure in utero: A second report. Am J Med Genet 75:220-222.
22. Wylie W. 1888. Case of entire absence of both mammae in a female aged 21 years. Br Med J 2:235.