RESUMO
Introduction and importance: Joubert syndrome (JS) is defined by the characteristic set of cerebellum and midbrain abnormalities that communally result in the indicative "molar tooth sign" on the axial MRI report. The incidence of estimated to be from 1:80,000 to 1:100,000. Case presentation: Clinical features can be noticed shortly after birth that includes hypotonia episodic tachypnea and apnea that may be followed by developmental delays and speech apraxia. Polydactyly, cleft lip or palate, tongue abnormalities, hypotonia, encephalocele, meningocele, hydrocephalus, kidney problems, pituitary abnormality, and autistic-like behavior are the other deformities that can be seen with JS. Seizures may also occur. Motor disability and mental health range from mild to severe forms. Clinical discussion: Treatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development. Conclusion: JS can be missed if special attention were not given to radiological findings.
RESUMO
Introduction: and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations. Case presentation: We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC. Clinical discussion: Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS. Conclusion: Both of the disease syndromes are diagnosed clinically after birth.Keywords: McKusick Syndrome, Bardet-beidel syndrome, hydrometrocolpos, case report.