scholarly journals Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
R. Curtis Rogers ◽  
Bridgette Aufmuth ◽  
Stephanie Monesson
Keyword(s):  
Immune Deficiency ◽  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Clinical Laboratory ◽  
Postnatal Growth ◽  
Clinical Findings ◽  
Brain Anomalies ◽  
Severe Intellectual Disability ◽  
Cytoplasmic Vacuoles ◽  
Male Sibling

Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome.Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings.Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy.Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.

A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

PEDIATRICS ◽  
1971 ◽  
Vol 47 (3) ◽  
pp. 610-612
Author(s):  
Richard L. Neu ◽  
Tadashi Kajii ◽  
Lytt I. Gardner ◽  
Stephen F. Nagyfy ◽  
Saddie King
Keyword(s):  
Corpus Callosum ◽  
Congenital Anomalies ◽  
Congenital Abnormalities ◽  
Clinical Findings ◽  
Cytogenetic Abnormality ◽  
Multiple Congenital Anomalies ◽  
Multiple Congenital Abnormalities

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

CAT SCRATCH SYNDROME

PEDIATRICS ◽  
1952 ◽  
Vol 10 (3) ◽  
pp. 311-318
Author(s):  
WILLIAM J. WATERS ◽  
SEYMOUR S. KALTER ◽  
JOHN T. PRIOR
Keyword(s):  
Skin Test ◽  
Laboratory Tests ◽  
Complement Fixation Test ◽  
Complement Fixation ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Pathologic Findings ◽  
History Of

The clinical, laboratory and pathologic findings of a series of cases of cat scratch syndrome have been reviewed. In spite of a variable clinical course, certain features associated with a selected group of laboratory tests appear to be constant enough to be of diagnostic value. A history of contact with a cat and/or scratch which is usually associated with a peripheral skin lesion, lack of lymphangitis, presence of regional lymphadenopathy with tenderness to palpation are the most constant clinical findings. Fever, so frequently emphasized as a characteristic clinical sign, may be extremely variable in type and duration or entirely absent. A skin test with cat scratch antigen has been positive in all cases. Lacking this antigen, a negative Frei skin test in conjunction with a positive complement fixation test (Lygranum C. F.) is suggestive evidence for the diagnosis. With positive evidence from the above data, biopsy of an affected gland with its relatively nonspecific pathologic picture is not considered essential for the establishment of the diagnosis of cat scratch syndrome.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

2021 ◽  
Vol 14 (10) ◽  
pp. e244641
Author(s):  
Petya Bogdanova-Mihaylova ◽  
Patricia McNamara ◽  
Sarah Burton-Jones ◽  
Sinéad M Murphy
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Rare Condition ◽  
Compound Heterozygous ◽  
Sensorimotor Neuropathy ◽  
Autosomal Recessive Condition ◽  
Solute Carrier ◽  
Compound Heterozygous Mutations ◽  
Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

2021 ◽  
Author(s):  
Leonardo Furtado Freitas ◽  
Gabriel Santaterra Barros ◽  
Enrico Affonso Barletta ◽  
Pablo Picasso de Araújo Coimbra ◽  
Charles Marques Lourenço ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Developmental Delays ◽  
Early Recognition ◽  
Clinical Syndrome ◽  
Diagnostic Odyssey ◽  
Cerebellar Dysplasia ◽  
Autosomal Recessive Condition

AbstractChudley–McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2

2020 ◽  
Author(s):  
Piranit Nik Kantaputra ◽  
Prapai Dejkhamron ◽  
Worrachet Intachai ◽  
Chumpol Ngamphiw ◽  
Katsushige Kawasaki ◽  
...  
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Upper Limb ◽  
Autosomal Recessive ◽  
Cleft Lip ◽  
Clinical Findings ◽  
Protein Model ◽  
Whole Exome ◽  
Cleft Lip Palate

Summary Background Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. Objective To report for the first time the molecular aetiology of JHS. Patient and methods Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, mutant protein model construction, and in situ hybridization of Esco2 expression in mouse embryos were performed. Results Clinical findings of the patient consisted of repaired cleft lip/palate, microcephaly, ptosis, short stature, delayed bone age, hypoplastic fingers and thumbs, clinodactyly of the fifth fingers, and humeroradial synostosis leading to elbow restriction. Intelligence is normal. Whole exome sequencing of the whole family showed a novel homozygous base substitution c.1654C>T in ESCO2 of the proband. The sister was homozygous for the wildtype variant. Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. Roberts/SC phocomelia syndrome and JHS share similar clinical findings, including autosomal recessive inheritance, short stature, cleft lip/palate, severe upper limb anomalies, and hypoplastic digits. Esco2 expression during the early development of lip, palate, eyelid, digits, upper limb, and lower limb and truncated protein model are consistent with the defect. Conclusions Our study showed that Roberts/SC phocomelia syndrome and JHS are allelic and distinct entities. This is the first report demonstrating that mutation in ESCO2 causes JHS, a cohesinopathy.

scholarly journals Genetic testing for Mendelian myopia

2017 ◽  
Vol 1 (s1) ◽  
pp. 74-76
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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