Newton Freire Maia, Brazilian human geneticist (Boa Esperança, Minas Gerais State 29 June 1918 – Curitiba 10 May 2003)

Authored 474 works

Recognized world authority in genetics of consanguineous marriages and ectodermal dysplasias

With Marta Pinheiro created a worldwide used classification for ectodermal dysplasias

With M. Pinheiro. Ectodermal dysplasias – some recollections and a classification. Birth Defects Orig. Art.Ser. 24:3-14, 1988.  

With Marta Pinheiro authored Ectodermal Dysplasias: a Clinical and Genetic Study (1984), the first book in the world about this theme  

NEW ECTODERMAL DYSPLASIAS

With I. Cat, L.P. Marinoni, D.J. Giraldi, V.P. Furtado, R. Pasquini & H. Braga. Epidermolysis  bullosa dystrophica, hypoplastic type, asociated with Pelger-Huet anomaly. Journal of Medical Genetics 4(4):302-3, 1967

With A. Freire-Maia & F.L. Freire-Maia. A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities. American Journal of Medical Genetics 22(4):370-7, 1970.

With I. Cat, V.L.V. Lopes, E.A. Chautard, F.A. Marçallo, I.J. Cavalli, R.F. Pilotto, M.C. Schetino & A.A. der Bedrossian. A new malformation syndrome. Lancet 1:840-1, 1970 

With I. Cat, V.L.V. Lopes, E.A. Chautard, I.J. Cavalli, R.F. Pilotto & F.A. Marçallo. A síndrome de Maringá – Estudos clínicos, bioquímicos, dermatoglíficos e cromossômicos. Resumos da XXII Reunião Anual da Soc. Bras. Progr. Ciencia, p.130-1, 1970.       

With I. Cat & O. Costa. A clinical reappraisal of a newly recognized ectodermal dysplasia. American Journal of Medical Genetics 24:598-9, 1972

With V.A. Fortes, L.C. Pereira, J.M. Opitz, F.A. Marçallo & I.J. Cavalli. A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract and other signs. Journal of Medical Genetics 12(3):308-10, 1975.  

With I. Cat & R.Rapone-Gaidzinski. An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations. Human Hereditary 27:127-33, 1977. 

With M.Pinheiro. Recessive anonychia totalis  and dominant aplasia (or hypoplasia) of upper lateral incisors in the same kindred. Journ. Med. Genet. 17(2):45-8, 1979.

With M. Pinheiro & C.C. Ortega. Recessive aplasia cutis congenita of the limbs. Journal of Medical Genetics 17(2):123-6, 1980.

With M. Pinheiro & L.C. Pereira. A previouslu undescribed condition:tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias. Brazilian Journal of Dermatology 105:371-82, 1981.   

With M. Pinheiro & L. C. Pereira. A previously undescribed condition. Tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias. Br.J.Dermatol. 105:371-82, 1981.

With A.F.P. Alves, P.A.B. Santos & E. Castelo Branco Neto. Na autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, cataract and other manifestations. Am.J.Med.Genet. 10:213-8, 1981.   

With D.V. Freire-Maia, C.E.P. Trindade, C.Y. Sughihara & J.M.Opitz. Nova síndrome malformativa acrorenal. Ciencia e Cultura 33:688, 1981.   

With M. Pinheiro & J.M. Opitz. The neurofaciodigitorenal (NFRD) syndrome. American Journal of Medical Genetics 11:329-36, 1982.

With M. Pinheiro. Uma displasia ectodérmica pura devido a gene autossômico dominante. Ciência e cultura 34:764, 1982.

With M. Pinheiro. Dermodontodysplasia: an eleven-member four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. Clin. Genet. 24:58-68, 1983. 

With M. Pinheiro & A.J. Roth. Trichoodontoonychial dysplasia – a new mesoectodermal dysplasia. Am.J.Med.Genet. 15:67-70, 1983.

With M. Pinheiro, E.A. Chautard Freire-Maia, L.M.B. Araújo & B. Liberman. Aredyld: a syndrome combining na acrorenal Field defect, ectodermal dysplasia, lipoatrophic diabetes and other manifestations. Am.J.Med.Genet. 16:29-33, 1983.  

With M. Pinheiro & T.R. Goollop. Odontoonycho dysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance. Am.J.Med.Genet. 20:197-202, 1985.

With M. Pinheiro & A. Fernandes dos Santos. Trichoonychodysplasia with xeroderma, na apparently hitherto undescribed pure ectodermal dysplasia. Rev.Bras.Genet. 8(4):775-8, 1985.

With M. Pinheiro, D.V. Freire-Maia, E. Miranda & O.G.Silva Filho. Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup. Clin.Genet.29:332-6, 1986.       

With E.H. Tajara & M. Pinheiro. Pilodentoungular dysplasia with microcephaly, a new ectodermal dysplasia/malformation syndrome. Am.J.Med.Genet. 26:153-6, 1987.

With R.B. Martínez, A.L. Monasterio & M. Pinheiro. Cleft lip, palate, oligodontia, syndactyly   hair alterations, a new syndrome. Review of the conditions combining ectodermal dysplasia and cleft lip palate. Am.J.Med.Genet. 27:23-31, 1987.   

With L. Ceccato de Lima & M. Pinheiro. Oculotrichodysplasia (OTD), a new probably autosomal recessive condition. Journal of Medical Genetics 25:430-2, 1988.

With M. Pinheiro. Displasia pêlo-unha (uma nova dysplasia ectodérmica pura): doze afetados em seis gerações de uma mesma família. Ver. Bras. Genet. 14 (Supp): 189, 1991.

With M. Pinheiro. Hair-nail dysplasia. A new pure autosomal dominant ectodermal dysplasia. Clinical Genetics 41:296-8, 1992.

With A. Montebelo Filho, A.R.S. Freire-Maia & M. Pinheiro. Odontoungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia. Braz. J. Genet. 19(3):162, 1996 (Suppl)

With A.R.S. Freire & M. Pinheiro. Nova displasia ectodérmica do subgrupo odonto-onico-disidrótico. 48 Reunião Anual da Soc. Bras. Progr. Ciencia, 1996-7    

METHODOLOGY

A method to estimate mutational load

With A. Freire-Maia. Novo método para a estimativa da carga mutacional. Boletim Soc. Bras. Genetica 6(1-2):23-24, 1964.

A way to estimate mean number of deleterious genes in one person

With a. Freire-Maia. Uma nova forma para a estimativa do número médio de gens deletérios por pessoa. Atas do Primeiro simpósio Sul-Americano de Genética, São Paulo, 264-5, 1961.

With F.A. Marçallo. Coeficientes de inbreeding para gens ligados ao sexo. Bol. Soc. Bras. Genetica 2(2):14-6, 1960

Papers in top journals

With M. Pinheiro. Identifying carriers for X-linked hypohydrotic ectodermal dysplasia. Lancet 2 (8044):936, 1977

With M.P. Pederneiras & E. Karam Jr. Umbilical tetanus in Brazil. Lancet 1 (7709):1134, 1971

With J.C. Brage, H. Abdala & N. Tartuce. Mental retardation: risks of recurrence. Lancet 1 (7661):1390, 1970

With L.G. Da Fonseca. Congenuital malformations of the limbs. Lancet 1 (7637):90-1, 1970

With J.B. Azevedo. Skeletal limb deficiencies. Lancet 2 (7581):1296, 1968

With E. Karam Jr. Phenylthiocarbamide and mental immaturity. Lancet 1 (7490):622, 1967

Pregnancy order and risk of abortion. Lancet 1 (7332):564-5, 1964

With A. Freire Maia A. Quelce Salgado. Parity effect on abortions. Lancet 1 (7284):774-5, 1963

With F.A. Marçallo. New recurrent series in inbreeding phenomena. Nature 189:421-2, 1961 

With A. Quelce Salgado. Lethal mutations in Brazilian human populations. Nature 189:80, 1961

With A. Freire Maia. Estimate of the human load of mutations from heterogeneous consanguineous samples. Science 132 (3436):1317, 1960   

EPONYMY

Freire Maia syndrome  (1970)

Freire Maia-Pinheiro-Opitz syndrome (neurofaciodigitorenal syndrome) 1982

Pinheiro-Freire Maia-Miranda syndrome (trichodermodental syndrome) 1986