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J Pediatr Genet 2023; 12(03): 233-236
DOI: 10.1055/s-0041-1726038
Case-Based Review

Neu–Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

Ravi Kapoor
1   City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India
,
Seema Thakur
2   Department of Genetic and Fetal Diagnosis, Fortis Hospital, New Delhi, India
,
Aakar Kapoor
1   City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India
,
Sunita Kapoor
1   City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India
,
Apurva Kalra
,
Aakriti Kapoor
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Abstract

Neu–Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.

Keywords

Neu–Laxova's syndrome - limb anomalies - PHGDH gene - serine biosynthesis defect

Informed Consent

Consent was taken for procedures during pregnancy and fetal autopsy.


Authors' Contributions

S.T. contributed to autopsy, genetic testing and interpretations of NGS results, and manuscript writing. R.K. is the radiologist for ultrasound. A.K. is the radiologist for MRI and helped in manuscript writing. A.K. is the radiologist for USG. A.K. is the radiologist for MRI. S.K. performed histopathology.




Publication History

Received: 29 October 2020

Accepted: 03 February 2021

Article published online:
01 June 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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