Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1982 October; 19(5): 388–389.
PMCID: PMC1048930

Congenital universal alopecia, mental deficiency, and microcephaly in two sibs


A brother and sister are reported who had congenital universal atrichosis, microcephaly, and mental retardation. Similar observations representing a rare nosological group are summarised. Heterogeneity is suggested. The pathogenesis of the individual syndromes is unknown.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (331K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • DAVIES GE. Prospects for animal tests in experimental sensitization to drugs. Proc R Soc Med. 1962 Jan;55:11–14. [PubMed]
  • Crandall BF, Samec L, Sparkes RS, Wright SW. A familial syndrome of deafness, alopecia, and hypogonadism. J Pediatr. 1973 Mar;82(3):461–465. [PubMed]
  • Freire-Maia N, Cat I, Raponegaidzinski R. An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations. Hum Hered. 1977;27(2):127–133. [PubMed]
  • Morris J, Ackerman B, Koblenzer PJ. Generalized spiny hyperkeratosis, universal alopecia, and deafness. A previously undescribed syndrome. Arch Dermatol. 1969 Dec;100(6):692–698. [PubMed]
  • Mosavy SH. Letter: Universal alopecia and microcephaly in 4 siblings. S Afr Med J. 1975 Feb 8;49(6):172–172. [PubMed]
  • Perniola T, Krajewska G, Carnevale F. Le neuroectodermosi con alopecia o ipotricosi. Revisione della letteratura. Acta Neurol (Napoli) 1977 May-Jun;32(3):357–379. [PubMed]
  • Shokeir MH. Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality. Clin Genet. 1977 Jan;11(1):13–17. [PubMed]
  • del Castillo V, Ruiz-Maldonado R, Carnevale A. Atrichia with papular lesions and mental retardation in two sisters. Int J Dermatol. 1974 Sep-Oct;13(5):261–265. [PubMed]
  • DAMSTE TJ, PRAKKEN JR. Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. Dermatologica. 1954 Feb;108(2):114–121. [PubMed]
  • LOEWENTHAL LJ, PRAKKEN JR. Atrichia with papular lesions. Dermatologica. 1961 Feb;122:85–89. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group