Prenatal diagnosis of Joubert syndrome: a case report.
Joubert syndrome is a rare, autosomal recessive condition, first described by Joubert in 1969. We present a case of Joubert syndrome from a consanguineous family in which, apart from the cerebellar vermis agenesis, ventriculomegaly, bilateral postaxial polydactyly of hands and right foot and micropenis, episodes of fetal breathing pattern with an increased respiratory rate were also demonstrated by prenatal ultrasound scan. At birth the infant showed an odd face and bilateral fleshy nodules of the tongue. He had an abnormal breathing pattern of alternating tachypnea and apnea. Cranial MRI showed molar tooth sign, hydrocephalus and Dandy-Walker malformation. He had nystagmus, and electroretinography showed retinal dystrophy.
Aslan
Halil
H
Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey. mahirgulcan@doctor.com
Ulker
Volkan
V
Gulcan
E Mahir
EM
Numanoglu
Ceyhun
C
Gul
Ahmet
A
Agar
Mehmet
M
Ark
H Cemal
HC
D000328:Adult; D002531:Cerebellum / Q000002:abnormalities*; D003241:Consanguinity; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D005260:Female; D005865:Gestational Age; D006325:Heart Atria / Q000002:abnormalities; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D010413:Penis / Q000002:abnormalities; D017689:Polydactyly / Q000000981:diagnostic imaging; D011247:Pregnancy; D012119:Respiration; D013577:Syndrome; D014421:Turkey; D016216:Ultrasonography, Prenatal