Marta Pinheiro

A previously undescribed condition: tricho‐odonto‐onycho‐dermal syndrome. A review of the tricho‐odonto‐onychial subgroup of ectodermal dysplasias

An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodysplasia, dry skin with hypochromic and atrophic (poikiloderma‐like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for differential diagnosis.

Christ-Siemens-Touraine syndrome. Investigations on two large brazilian kindreds with a new estimate of the manifestation rate among carriers

SummaryTwo large Brazilian families with 34 males and 32 females presenting Christ-Siemens-Touraine syndrome are reported. As “unusual” features, one kindred presented two very severely affected girls, nine affected males with a normal nose, and a very heterogeneous trichodysplasia among both males and females; oligohydramnios was verified in the pregnancies of carriers from both kindreds. Carrier detection was possible in 0.73–0.04 of all the cases.

Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto-onychial subgroup

A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ectodermal dysplasia of the tricho‐odonto‐onychial subgroup probably due to an autosomal dominant gene.

Dermoodontodysplasia: an eleven‐member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia

A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho‐odonto‐onychial subgroup and proved to be different from all the others.

Trichodysplasia-xeroderma: an autosomal dominant condition.

We describe six generations of a family with an autosomal dominant condition combining different degrees of trichodysplasia and xeroderma.

Further evidence against linkage between Christ-Siemens-Touraine (CST) and XG loci.

SummaryA Brazilian informative pedigree for the CST:XG linkage relationship is analysed. The present lods, together with those from previously published data, provide evidence for the exclusion of linkage until a value of θ around 0.34.

Two other cases of ANOTHER syndrome? family report and update

We describe one daughter of a possibly distant consanguineous couple with infantile hypothyroidism, trichodysplasia, dental anomalies, dystrophic nails, skin alterations, otitis media, slight conductive hypoacusia, recurrent respiratory tract infections, and gastroenterologic problems. One of her two sisters presents dental anomalies and trichodysplasia, and had dry skin at birth. Similarity indexes are estimated for our patients in comparison with those described under the acronym ANOTHER syndrome. It is concluded that, in spite of the differences, it is possible that our two patients also present ANOTHER syndrome. The cause is unknown.

Odonto-ungueal dysplasia: an apparently new autosomal dominant ectodermal dysplasia

We describe 27 subjects (11 women) from five generations of a family with an apparently hitherto undescribed ectodermal dysplasia. All of them presented dental and/or nail alterations only. A genetic analysis of the family suggests an autosomal dominant gene. Differential diagnosis considered eight conditions belonging to the same odonto-onychic (2-3) subgroup, as well as Frieds tooth and nail syndrome and hypodontia and nail dysgenesis (both in 1-2-3 subgroup).

A inteligência: uma contribuição da biologia ao processo educativo

Este artigo discute o topico Inteligencia sob a perspectiva biologica, destacando conceitos de Genetica considerados fundamentais para a compreensao do comportamento humano.

Comportamento humano – interação entre genes e ambiente

Quando grupos humanos sao considerados, as simples observacao nos convence de que as diferencas na constituicao fisica (por exemplo, cor da pele, altura etc.) sao biologicas. Mas ha tambem diferencas em muitos tracos comportamentais e estes costumam confrontar o observador com um problema: as diferencas comportamentais sao determinadas cultural ou geneticamente?