We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas. Features unique to this child include profound mental retardation, bilateral sensorineural hearing loss, agenesis of the corpus callosum, patent ductus arteriosus, ventricular septal defect, unilateral renal agenesis, neurogenic bladder and hydronephrosis. High resolution chromosome analysis demonstrated a de novo, balanced translocation [46,XX,t(2;9)(p24;q32)]; and her case has some overlapping phenotypic features with cases of monosomy for 2p. This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect.
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A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.
Brain Dev
October 2023
Department of Genetics, Fernandez Foundation, Hyderabad, India.
Background: Autism spectrum disorder is a major neurodevelopmental disorder. Temtamy syndrome is a rare syndromic intellectual developmental disorder that presents with global developmental delay, autism, seizures, and agenesis/dysgenesis of the corpus callosum.
Methods: We report a case of a male child who presented with global developmental delay, and autism.
[Ocular manifestations in Temtamy syndrome: A case report].
J Fr Ophtalmol
December 2022
Service d'ophtalmologie A, hôpital des spécialités, université Mohammed V, CHU Ibn Sina, Souissi, BP 6220 Rabat, Maroc.
pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child.
J Genet
July 2022
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Thiruvananthapuram 695 011, India.
Article Synopsis
- The text discusses Temtamy syndrome, a rare disorder linked to open reading frame variants that lead to symptoms like intellectual disability and seizures, particularly involving the development of the corpus callosum.
- It presents a case study of the first Indian child diagnosed with developmental and epileptic encephalopathy (DEE) characterized by unique focal onset reflex seizures.
- Whole exome sequencing revealed two significant genetic variants in the child, contributing to our understanding of this rare syndrome and expanding its representation within the Indian population.
Temtamy syndrome caused by a new variant in a Chinese boy, including pedigree analysis and literature review.
Exp Ther Med
January 2020
Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing 400014, P.R. China.
Temtamy syndrome is an extremely rare disorder caused by chromosome 12 open reading frame 57 () pathogenic variants. The present study reported a boy with Temtamy syndrome displaying global developmental delay, epilepsy and dysmorphic facial appearance. Whole-exome sequencing was performed to identify a novel homozygous pathogenic variant of (c.
View Article and Find Full Text PDFFurther delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Am J Med Genet A
March 2018
Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, Saudi Arabia.
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.
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