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]

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]

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]

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]

• Multiple Congenital Anomalies

  American Journal of Medical Genetics 39243-246 (1991) Brief Clinical Report Short Rib Syndrome Beemer-Langer Type With Polydactyly: A Multiple Congenital Anomalies Syndrome S. Samuel Yang, Joel A. Roth, and Leonard 0. Langer, Jr. [docksci.com]

• Hyperpnea

  Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

• Nystagmus

  JS is characterized by congenital ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements, including nystagmus and oculomotor apraxia2. [scielo.br]

  Perrault syndrome 5 CA2 8q21.2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 CASK Xp11.4 FG syndrome 4 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus [institutobernabeu.com]

• Seizure

  12q23.2 Mucolipidosis II alpha/beta 252500 Mucolipidosis III alpha/beta 252600 GNRHR 4q13.2 Hypogonadotropic hypogonadism 7 without anosmia 146110 GPC3 Xq26.2 Simpson-Golabi-Behmel syndrome, type 1 312870 Wilms tumor, somatic 194070 GPR98 5q14.3 Febrile seizures [institutobernabeu.com]

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]