Internal Medicine and Medical Investigation Journal

ISSN: 2474-7750

Multiple Congenital Anomalies in a Preterm Neonate with G6PD Deficiency from Consanguine-ous Parents, a Case Report

Abstract

Author(s): Mohammad Zahedi1, Faeze Azadi2, Mohammad Moein Maddah2, Ali Mirabi3, Mohsen Hosseinzadegan3, Marzieh Zamaniyan

Congenital anomalies can be defined as structural or functional

disorders, including metabolic disorders. The prevalence of congenital anomalies

is not high.

Case Presentation:

We would like to present a 34-week- preterm

neonate with glucose-6-phosphate dehydrogenase deficiency who was born with

several fetal anomalies from consanguineous parents. Mother had a twin-birth

pregnancy which one of twins died because of lung hemorrhage and the second

twin was born with multiple anomalies four fingers in both hands, short legs

attached to the pelvic bone, and absence of tibia, fibula, and ankle bones. Hemi-

melia, which was mostly known as the congenital deformity and a type of phoc

-

omelia, is extremely rare. To detect most of these types of anomalies, magnet

-

ic resonance imaging, radiography, ultrasound, and computed tomography scan

can be used.

Conclusion:

Congenital anomalies are the cause of many infants’

deaths. To detect most of these types of anomalies, MRI, radiography, ultrasound,

and computed tomography (CT) scan can be used

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