Abnormalities, Multiple ; diagnosis ; Adolescent ; Humans ; Male ; Spleen ; abnormalities ; Testis ; abnormalities

Abnormalities, Multiple ; diagnosis ; therapy ; Asphyxia ; pathology ; Female ; Humans ; Infant ; Musculoskeletal Abnormalities ; diagnosis ; therapy ; Syndrome ; Thorax ; abnormalities

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

Abnormalities, Multiple ; diagnosis ; Colon ; abnormalities ; Humans ; Infant, Newborn ; Male ; Peristalsis ; Syndrome ; Urinary Bladder ; abnormalities

OBJECTIVETo describe the magnetic resonance (MR) imaging manifestations in vaginal anomalies, and to discuss the utility and limit of MR imaging in diagnosis of this abnormality.

METHODSNine female patients with congenital vaginal anomalies who required surgical intervention were studied. MR imaging and ultrasound of the pelvic was performed before surgery. MR imaging features were retrospectively analyzed correlating with surgery.

RESULTSThe vaginal anomalies were categorized into three groups: (1) congenital absence of the vagina and uterus, i.e. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) (n=3); (2) vaginal atresia (n=2); and (3) transverse vaginal septum (n=2). There was also one case of absence of vaginal with complicated urinogenital abnormality, and 1 case of obstructed hymen.

CONCLUSIONSMRI is a reliable method for evaluating vaginal anomalies. An accurate MRI examination can be helpful for surgical management.

Abnormalities, Multiple ; diagnosis ; Adolescent ; Adult ; Female ; Humans ; Hymen ; abnormalities ; Magnetic Resonance Imaging ; Retrospective Studies ; Urogenital Abnormalities ; diagnosis ; Uterus ; abnormalities ; Vagina ; abnormalities

OBJECTIVETo explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).

METHODThe clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.

RESULTThe age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).

CONCLUSIONJoubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Abnormalities, Multiple ; Cerebellar Diseases ; diagnosis ; physiopathology ; Cerebellum ; abnormalities ; Child ; Eye Abnormalities ; diagnosis ; physiopathology ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; physiopathology ; Male ; Retina ; abnormalities ; physiopathology

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

OBJECTIVE: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2. RESULTS: The proband of pedigree 1 was a fetus at 23⁺⁵ weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up. CONCLUSION The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Female ; Humans ; Pregnancy ; Pedigree ; Cerebellum/abnormalities* ; Abnormalities, Multiple/diagnosis* ; Eye Abnormalities/diagnosis* ; Kidney Diseases, Cystic/diagnosis* ; Phosphoric Monoester Hydrolases/genetics* ; Retina/abnormalities* ; East Asian People ; Mutation

Cantrell's Pentalogy is a rare condition that consists of defects involving the abdominal wall, lower sternum, anterior diaphragm, pericardium, and heart. In the literature to date, pregnant women with Cantrell's Pentalogy have not been discussed. We performed successful vaginal delivery of a 23-yr-old nulliparous, primigravid woman who had been diagnosed with this condition. Diagnosis was based on cardiac catheterization, angiography, and echocardiogram, and abdominopelvic CT. Vaginal delivery may be an option for women with Cantrell's Pentalogy and may be attempted with caution.
Abdominal Muscles/abnormalities ; Abdominal Wall/abnormalities ; *Abnormalities, Multiple ; Diaphragm/abnormalities ; Echocardiography ; Female ; Humans ; Oligohydramnios/diagnosis ; Pregnancy ; *Pregnancy Complications ; Pregnancy Outcome ; Sternum/abnormalities ; Tomography, X-Ray Computed ; Young Adult