Disease: Richieri Costa Guion-Almeida syndrome
- 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients
- A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessi
- Aarskog syndrome in a Brazilian boy born to consanguineous parents
- Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family
- Acrocallosal syndrome: report of a Brazilian girl
- Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome
- Amniotic bands and the EEC syndrome
- An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases
- Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
- Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?
- Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family
- Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome
- Cerebro-oculo-nasal syndrome: 13 new Brazilian cases
- Cerebrofaciothoracic syndrome
- Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome
- Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity
- Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
- Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases
- Clinical genetic study of 144 patients with nonsyndromic hearing loss
- Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases
- CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients
- Craniofrontonasal syndrome: study of 41 patients
- Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome
- Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies
- Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
- Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
- Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients
- Frontonasal dysplasia: analysis of 21 cases and literature review
- Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?
- Guadalajara camptodactyly syndrome type I: report on a new case
- Hypertelorism: interorbital growth, measurements, and pathogenetic considerations
- Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
- Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause
- Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
- Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients
- New case of the Richieri-Costa/Guion-Almeida syndrome
- New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients
- Newly recognized autosomal recessive faciothoracoskeletal syndrome
- Newly recognized autosomal recessive MCA/MR/overgrowth syndrome
- Newly recognized blepharofacioskeletal syndrome
- Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?
- Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union
- Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
- Pai syndrome: report of seven South American patients
- Postaxial acrofacial dysostosis: report of a Brazilian patient
- Postaxial acrofacial dysostosis: report on two patients
- Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
- Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases
- Severe midline craniofacial anomalies: overlap with Pai syndrome
- Short stature, mental retardation, eye anomalies, and cleft lip/palate
- Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
- The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations