Abstract
We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.
Full text
PDF

Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Baraitser M., Carter C. O., Brett E. M. A new alopecia/mental retardation syndrome. J Med Genet. 1983 Feb;20(1):64–65. doi: 10.1136/jmg.20.1.64. [DOI] [PMC free article] [PubMed] [Google Scholar]
- King M. D., Gummer C. L., Stephenson J. B. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J Med Genet. 1984 Aug;21(4):286–289. doi: 10.1136/jmg.21.4.286. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Manouvrier-Hanu S., Largillière C., Farriaux J. P. Le syndrome G.A.P.O. A propos d'un nouveau cas. J Genet Hum. 1988 Aug;36(4):373–378. [PubMed] [Google Scholar]
- Perniola T., Krajewska G., Carnevale F., Lospalluti M. Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. J Inherit Metab Dis. 1980;3(2):49–53. doi: 10.1007/BF02312522. [DOI] [PubMed] [Google Scholar]
- Schinzel A. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. Helv Paediatr Acta. 1980 Jul;35(3):243–251. [PubMed] [Google Scholar]
- Shokeir M. H. Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality. Clin Genet. 1977 Jan;11(1):13–17. doi: 10.1111/j.1399-0004.1977.tb01271.x. [DOI] [PubMed] [Google Scholar]
- Tipton R. E., Gorlin R. J. Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet. 1984 Oct;19(2):209–216. doi: 10.1002/ajmg.1320190202. [DOI] [PubMed] [Google Scholar]
- Wessel H. B., Barmada M. A., Hashida Y. Congenital alopecia, seizures, and psychomotor retardation in three siblings. Pediatr Neurol. 1987 Mar-Apr;3(2):101–107. doi: 10.1016/0887-8994(87)90037-3. [DOI] [PubMed] [Google Scholar]
- 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. doi: 10.1111/j.1365-4362.1974.tb05078.x. [DOI] [PubMed] [Google Scholar]
- van Gelderen H. H. Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency. Am J Med Genet. 1982 Dec;13(4):383–387. doi: 10.1002/ajmg.1320130406. [DOI] [PubMed] [Google Scholar]

