scholarly journals Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Neerja Gupta ◽  
Anita Kaul ◽  
Madhulika Kabra
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Fetal Life ◽  
Fetal Ultrasound ◽  
Genetic Syndrome ◽  
First Case ◽  
The Family ◽  
Syndrome Diagnosis

Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

Prenatal diagnosis of congenital mirror foot: case report and review

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Gabriella Norwitz ◽  
Frances Farley ◽  
Deborah Rose Berman
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Early Diagnosis ◽  
Congenital Anomalies ◽  
Second Trimester ◽  
Rare Form ◽  
First Case ◽  
Mirror Foot ◽  
Tarsal Bones ◽  
The Family

Abstract Polydactyly refers to a group of congenital anomalies characterized by the presence of more than five fingers or toes per extremity. Mirror foot is an extreme and rare form of foot polydactyly characterized by the presence of extra tarsal bones and digits and is most often an isolated finding recognized at birth. Here, we report the first case of mirror foot diagnosed prenatally at the time of routine second trimester ultrasound. This early diagnosis allowed for thorough counseling that provided the family adequate time to process the diagnosis and prepare for neonatal management.

Proteus syndrome in pregnancy: A case report

2020 ◽  
pp. 1753495X2097079
Author(s):  
Niccole Ranaei-Zamani ◽  
Mandeep K Kaler ◽  
Rehan Khan
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Proteus Syndrome ◽  
Cutaneous Lesions ◽  
Genetic Syndrome ◽  
Skeletal Tissue ◽  
First Case ◽  
Large Teaching Hospital ◽  
Clinical Presentations ◽  
In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

Preserved myocardial [123 I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: First case report

2005 ◽  
Vol 20 (5) ◽  
pp. 634-636 ◽  
Author(s):  
Masahiko Suzuki ◽  
Nobutaka Hattori ◽  
Satoshi Orimo ◽  
Nobuyoshi Fukumitsu ◽  
Masahiro Abo ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
First Case

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals Dorsolumbosacral agenesis: Case report and literature review

2021 ◽  
Vol 12 (2) ◽  
Author(s):  
Andrés Mauricio Camacho Montaño ◽  
Reinaldo Child Alba Reinaldo ◽  
María Camila Cetina Grajales
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
Perinatal Death ◽  
Severe Form ◽  
Second Trimester ◽  
Review Of The Literature ◽  
The Third ◽  
First Case ◽  
Made In

Objetives: To report a case of dorsolumbosacral agenesis and to make a systematic review of the literature focused on prenatal diagnosis. Materials and methods: We report a case of a 32year old pregnant woman, with a 30 week pregnanacy, without prenatal care, the fetus is diagnosed with dorsolumbosacral agenesis. The mother request voluntary termination of pregnancy. A systematic review of the literature focused on prenatal diagnosis of thos condiction is performed. Results: We found 50 papers, 6 met the inclusión critiria. Three of them with prenatal diagnosis. In the first case the diagnosis was made at 13 weeks of gestation and termination of preganancy was requested. In the second case corresponded an biamniotic bicorial twin preganancy. One normal feto and one presented dorsolumbosacral agenesis. The diagnosis was made in the second trimester. The pregnancy continued until 34 week of gestation and the affected neonate had perinatal death. The third case, the diagnosis was made at 18 weeks and a male newborn of 2990gr was born at 37 weeks of gestation. Conclusion: Dorsolumbosacral agenesis is a very severe form of caudal regresión syndrome, with only a few cases reportted in the literature. To the best of our knowladge this is the fourth case reported with prenatal diagnosis.

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

2001 ◽  
Vol 4 (2) ◽  
pp. 180-184 ◽  
Author(s):  
F. Daïkha-Dahmane ◽  
M. Dommergues ◽  
F. Narcy ◽  
M.C. Gubler ◽  
Y. Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Histological Examination ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Autosomal Recessive Disease ◽  
Type I ◽  
Autopsy Findings ◽  
Congenital Erythropoietic Porphyria ◽  
Made In

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

scholarly journals Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 185 ◽  
Author(s):  
Ma ◽  
Chen ◽  
Wu ◽  
Chang ◽  
Chang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Urinary Bladder ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Normal Kidney ◽  
Renal Tubular Dysgenesis ◽  
Fetal Ultrasound ◽  
Refractory Hypotension ◽  
Renal Tubular ◽  
Agt Gene

Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal diagnosis of ARRTD is challenging because only a few fetal features (e.g., oligohydramnios/anhydramnios, anuria) are associated with this condition. In this study, we report a fetus with ARRTD, which showed anhydramnios and invisible urinary bladder since the second trimester, followed by growth restriction and reversed end diastolic flow in the middle cerebral artery (MCA-REDF). No morphological anomaly was detected on the fetal kidneys during an ultrasound scan. The baby died of refractory hypotension the day after their birth. Genetic analysis of genes that are involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of ARRTD, identified a novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the AGT gene. The mutation is considered as pathogenic because it is cosegregated with ARRTD and detected in other unrelated ARRTD families. Our findings link the fetal ultrasound manifestations to the ARRTD, highlighting clues that are useful for prenatal diagnosis, which warrants confirmatory genotyping of the RAAS genes including oligohydramnios/anhydramnios, anuria (absent filling of a fetal urinary bladder), MCA-REDF, and a morphologically normal kidney.

First Case Report of Mange in Molossus molossus (Chiroptera: Molossidae) Caused by Notoedres (Notoedres) yunkeri (Sarcoptiformes: Sarcoptidae) in Minas Gerais State, Brazil

2020 ◽  
Author(s):  
Ricardo Bassini-Silva ◽  
Matheus Huang-Bastos ◽  
Érica Munhoz de Mello ◽  
Barry M Oconnor ◽  
Darci Moraes Barros-Battesti ◽  
...  
Keyword(s):  
Case Report ◽  
Minas Gerais ◽  
First Case ◽  
The Family ◽  
Minas Gerais State ◽  
Molossus Molossus

Abstract There are many records of the family Sarcoptidae in bats. The species Notoedres (Notoedres) yunkeri has been reported only once, parasitizing a molossid bat in Panama. In the present study, we expand the occurrence of the species to Brazil.

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