PubMed Health⌕ Search

Biomedical subjects

A Richieri-Costa

Publications and source records attributed to A Richieri-Costa.

At least 55 records · Page 3Linked to original sources
PubMed1993

Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.

Abnormalities, Multiple↗
PubMed1993

Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.

We report on 3 Brazilian children with short stature, microcephaly, cleft palate, lateral synechiae, and mild mental retardation. One patient was an isolated case and the other had an equally affected brother. Genetic aspects and phenotypic manifestations are compared with those of previous reports with oral synechiae. Recurrence in sibs suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1993

Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.

We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1993

Newly recognized blepharofacioskeletal syndrome.

A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.

Abnormalities, Multiple↗
PubMed1993

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

Adult↗
PubMed1992

Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.

We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed.

Abnormalities, Multiple↗
PubMed1992

Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients.

We have evaluated 25 patients (14 isolated and 11 familial cases) with the EEC syndrome for genitourinary (GU) tract anomalies through intravenous pyelogram (IVP), voiding urethrocystography, and sonographic examination. Fifty-two percent of the patients (7 isolated and 6 familial cases) had involvement of the urinary tract, with no significant difference between isolated and familial cases. The present data seem to reflect the best estimate of the prevalence of genitourinary anomalies in patients with the EEC syndrome.

Abnormalities, Multiple↗
PubMed1992

Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.

We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex.

Abnormalities, Multiple↗
PubMed1992

Postaxial acrofacial dysostosis: report on two patients.

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Abnormalities, Multiple↗
PubMed1992

CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.

We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

Abnormalities, Multiple↗
PubMed1992

Acrocallosal syndrome: report of a Brazilian girl.

We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.

Agenesis of Corpus Callosum↗