2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

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Schinzel-Giedion syndrome (SGS) is an extremely rare neurodevelopmental disorder characterized by distinctive facial features, urological abnormalities, skeletal anomalies, and neuroimaging findings. It is caused by de-novo mutations in the SETBP1 gene. A case report from India describes a newborn baby girl with SGS who presented with facial dysmorphism and bilateral pelvi-ureteric junction obstruction. The baby had typical facial features of SGS including a prominent forehead, hypertelorism, low nasal root, and midface retraction. Neuroimaging showed callosal dysgenesis, dilated lateral ventricles, and choroid plexus cysts. The baby also had bilateral hydronephrosis, which is a common finding in SGS. Genetic testing confirmed a de-novo missense mutation in the SETBP1 gene.<br /><br />SGS is associated with developmental delay and various neurological impairments, including seizures, spasticity, and vision and hearing problems. The most common neuroimaging findings in SGS include callosal dysgenesis, ventriculomegaly, cortical atrophy, and choroid plexus cysts. Other associated anomalies include cardiac defects, genital abnormalities, skeletal abnormalities, and bone abnormalities.<br /><br />This case report highlights the first genetically confirmed case of SGS in India and provides a review of the neuroimaging findings in SGS. The combination of typical facial features and congenital hydronephrosis facilitated the clinical diagnosis of SGS in this patient. The identification of the SETBP1 mutation in this case adds to the growing body of knowledge regarding the genetic basis of SGS.

Asset Subtitle

Presenting Author - Pavalan Panneer Selvam, MBBS; Co-Author - Paramasivam G, MSc; Co-Author - Sumita Danda, MD, DM;

Meta Tag

Brain/Nervous System

Clinical History

Congenital Anomaly

Dysmorphology

Fetal Pathology

Genetic Testing

Genitourinary malformations

Genotype-Phenotype Correlations

Malformation

Noninvasive prenatal screening (NIPS)

Phenotype

Phenotypic delineation of disorders

Prenatal Diagnosis

Ultrasound

Variant Detection

Co-Author Paramasivam G, MSc

Co-Author Sumita Danda, MD, DM

Presenting Author Pavalan Panneer Selvam, MBBS

Keywords

Schinzel-Giedion syndrome

neurodevelopmental disorder

facial features

urological abnormalities

skeletal anomalies

neuroimaging findings

SETBP1 gene

callosal dysgenesis

ventriculomegaly

choroid plexus cysts