title: [Prenatal discovery of Joubert syndrome associated with small bowel volvulus].
abstract: Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis before or after delivery. This type of condition justifies the transfer of pregnant women to a specialized hospital where the newborn may receive appropriate care. We report the case of a 31-week and 4-day gestational-age fetus in whom intrauterine growth retardation and small-bowel volvulus were diagnosed. Additional imaging revealed associated Joubert syndrome. This highlights the need for regular ultrasound monitoring during pregnancy and the comanagement of obstetricians and pediatricians to provide appropriate care before and after delivery.
authors: Service des urgences pédiatriques, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. Electronic address: clementineauregan777@gmail.com.
authors: C
authors: C
authors: Aurégan
authors: Service de radiopédiatrie, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: V
authors: V
authors: Donciu
authors: Service de radiopédiatrie, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: A-E
authors: AE
authors: Millischer
authors: Service de chirurgie viscérale, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: N
authors: N
authors: Khen-Dunlop
authors: Service de gynécologie obstétrique, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: B
authors: B
authors: Deloison
authors: Service de radiopédiatrie, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: P
authors: P
authors: Sonigo
authors: Service de néonatalogie, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.
authors: J-F
authors: JF
authors: Magny
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D045822:Intestinal Volvulus / Q000150:complications / Q000000981:diagnostic imaging*; D007421:Intestine, Small / Q000000981:diagnostic imaging; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging