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Prenatal diagnosis of Joubert syndrome: A case report and literature review.

Abstract Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD.
PMID
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Joubert Syndrome and related disorders.

Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.

Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29390414
OWN - NLM
STAT- In-Process
LR  - 20180204
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 51
DP  - 2017 Dec
TI  - Prenatal diagnosis of Joubert syndrome: A case report and literature review.
PG  - e8626
LID - 10.1097/MD.0000000000008626 [doi]
AB  - INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited
      disease belonging to ciliopathy with the causative mutation of genes. Except for 
      X-linked inheritance, the high recurrence rate of a family is about 25%. After
      birth, it may cause a series of neurological symptoms, even with retina, kidney, 
      liver, and other organ abnormalities, which is defined as Joubert syndrome and
      related disorders (JSRD). Molecular genetics research contributes to disease
      prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance
      imaging (MRI) is usually the first-choice diagnostic modality with typical brain 
      images characterized by the molar tooth sign. We describe a case of JS prenatally
      and Dandy-Walker malformation for the differential diagnosis based on
      ultrasonograms. We also review the etiology, imaging features, clinical symptoms,
      and diagnosis of JSRD. CASE PRESENTATION: A 22-year-old woman was pregnant at 27 
      1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal
      ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple
      finally opted to terminate the fetus, which had a normal appearance and growth
      parameters. The couple also had an AHI1 gene mutation on chromosome 6.
      CONCLUSIONS: Currently, a diagnosis of JS is commonly made after birth. Fewer
      cases of prenatal diagnosis by ultrasonography have been made, and they are more 
      liable to be misdirected because of some nonspecial features that also manifest
      in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Zhu, Lingling
AU  - Zhu L
AD  - Ultrasound Department, Sheng Jing Hospital of China Medical University, Shenyang,
      Liaoning Province, People's Republic of China.
FAU - Xie, Limei
AU  - Xie L
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
PMC - PMC5758116
EDAT- 2018/02/03 06:00
MHDA- 2018/02/03 06:00
CRDT- 2018/02/03 06:00
PHST- 2018/02/03 06:00 [entrez]
PHST- 2018/02/03 06:00 [pubmed]
PHST- 2018/02/03 06:00 [medline]
AID - 10.1097/MD.0000000000008626 [doi]
AID - 00005792-201712220-00001 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Dec;96(51):e8626. doi: 10.1097/MD.0000000000008626.