Preaxial and/or postaxial polydactyly is present in the Majewski type, but documented polydactyly, which was postaxial, has been present in the BeemerLanger type only in the patient reported in this article. [docksci.com]

RESULTS Table 2 presents a summary of the clinical findings. Parents of case 1 were first cousin; consanguinity was denied in the remaining families. In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. [scielo.br]

Pathology. 2000 Nov; 32(4): 283-5 Natacci,-F; Corrado,-L; Pierri,-M; Rossetti,-M; Zuccarini,-C; Riva,-P; Miozzo,-M; Larizza,-L Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. [malattierare.regione.veneto.it]

Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1. NDT Plus. 2008;1(1):23‐25. doi:10.1093/ndtplus/sfm012 Diz P, Alvarez-Iglesias V, Feijoo JF, et al. [123dok.net]

Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1. Pediatr Dermatol. 2018;35(1):e88‐e89. doi:10.1111/pde.13350 Holub M, Potocki L, Bodamer OA. [123dok.net]

JS prognosis at an early age is difficult to be determined. Recognition of molar tooth sign at brain MRI is an essential cue for the diagnosis of JS. [scielo.br]