Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?

1993 ◽  
Vol 47 (5) ◽  
pp. 679-682 ◽  
Author(s):  
Dian Donnai ◽  
Margaret Barrow
Keyword(s):  
Corpus Callosum ◽  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Sensorineural Deafness ◽  
Autosomal Recessive Disorder

Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia

PEDIATRICS ◽  
1990 ◽  
Vol 85 (4) ◽  
pp. 499-504
Author(s):  
Christopher Cunniff ◽  
Kenneth Lyons Jones ◽  
Howard M. Saal ◽  
Harvey J. Stern
Keyword(s):  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Craniofacial Anomalies ◽  
Term Survival ◽  
Variable Expression ◽  
Central Nervous Systems ◽  
Genetically Determined

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

2020 ◽  
Author(s):  
Anita Spehar Uroic ◽  
Dragan Milenkovic ◽  
Elisa De Franco ◽  
Ernest Bilic ◽  
Natasa Rojnic Putarek ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Autosomal Recessive ◽  
Megaloblastic Anemia ◽  
Sensorineural Deafness ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Severe Anemia ◽  
Thiamine Therapy ◽  
Compound Heterozygotes ◽  
Slc19a2 Gene

AbstractThiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C > G; p.(Thr405Arg) in SLC19A2 gene. The first was diagnosed at 4 months with diabetes mellitus and severe anemia requiring transfusions. As TRMA was suspected, thiamine therapy was immediately started to prevent further transfusions and insulin therapy. His brother developed extreme anemia at 3 weeks of age while waiting for the results of the genetic test. Severe anemia in this sibling may have been prevented if thiamine had been initiated earlier.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations

2020 ◽  
Vol 36 (2) ◽  
pp. 152-158
Author(s):  
Aglaë Blauen ◽  
Chloe A. Stutterd ◽  
Katrien Stouffs ◽  
Dana Dumitriu ◽  
Naima Deggouj ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sensorineural Deafness ◽  
Autosomal Recessive Disorder ◽  
G Protein Signaling ◽  
Protein Signaling ◽  
Speech Delay ◽  
Cerebellar Dysplasia ◽  
Pathogenic Variants ◽  
Epileptic Spasms ◽  
Brain Malformations

Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial) agenesis of the corpus callosum, cerebellar dysplasia, arachnoid cysts, frontal subcortical heterotopia, and midline polymicrogyria. When hearing loss is managed early, most patients have minor or no impairment of motor and cognitive development, despite the presence of brain malformations. We report 2 cases of Chudley-McCullough syndrome, one presenting with congenital deafness and normal development except for speech delay and one presenting prenatally with ventriculomegaly and an atypical postnatal course characterized by epileptic spasms, deafness, and moderate intellectual disability. These highlight the challenges faced by clinicians when predicting prognosis based on pre- or postnatal imaging of brain malformations. We have also reviewed the phenotype and genotype of previous published cases to better understand Chudley-McCullough syndrome.

scholarly journals Acrocallosal Syndrome in a 6-Month-Old Pakistani Infant

2016 ◽  
Vol 3 (01) ◽  
pp. 38-41
Author(s):  
Rifayatullah Afridi ◽  
Aneela Ambreen ◽  
Faizan Ali Janjua
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Craniofacial Anomalies ◽  
Anterior Fontanelle ◽  
Anterior Fontanel ◽  
Acrocallosal Syndrome ◽  
Parental Counseling ◽  
Ct Brain

Acrocallosal syndrome is a rare autosomal recessive disorder. The prevalence of the disease is not known but fewer than 55 cases have been published since 1979. ACS is characterized by the total or partial absence of the corpus callosum, Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils and large anterior fontanel) moderate to severe psychomotor retardation (with hypotonia), polydactyly or polysyndactyly. We are reporting a case of 6 month old infant child who was admitted to the hospital with pneumonia, measles, episodes of fits, large anterior fontanelle, prominent forehead, high arched palate, fused tongue, micrognathism , hypotonia, motor developmental delay , polysyndactyly and absent corpus callosum. His clinical diagnosis was confirmed by CT-Brain. The patient was managed for superimposed pneumonia and measles. He was provided with other supportive treatment as well as parental counseling, physiotherapy sessions, and multiple disciplinary approaches was undertaken for further management.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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