An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia....

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Bibliographic Details
Published in:Acta medica Iranica 2022, Vol.60 (9), p.599
Main Authors: Koomanaee, Shahin, Dalili, Setila, Hoseini Nouri, Seyyedeh Azade, Jalali, Seyedeh Zohreh, Tabrizi, Manijeh, Aldaghi, Ghazaleh, Hassanzadeh Rad, Afagh
Format: Article
Language:English
Subjects:
Age
Attention deficit disorder with hyperactivity
Attention deficit hyperactivity disorder
Case reports
Hearing loss
Hydrocephalus
Hyperactivity
Intellectual disabilities
Intellectual disability
Meier-Gorlin syndrome
Microcephaly
Mutation
Neonatal seizure
Patients
Pediatrics
Radiography
Seizures
Ultrasonic imaging
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Description
Summary:Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.
ISSN:0044-6025
1735-9694
DOI:10.18502/acta.v60i9.11102