Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
We report a four-year-old girl who presented with intrauterine growth retardation, mild dysmorphism, cleft palate, microcephaly, developmental delay, epilepsy and recurrent lower respiratory tract infection and diagnosed short-chain acyl-CoA dehydrogenase deficiency. Metabolic evaluation and molecu...
Saved in:
| Main Authors: | Mustafa Kılıç, Saliha Şenel, Kadri Karaer, Serdar Ceylaner |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2017-12-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/1058 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Clinicoradiological profile of children presenting with global developmental delay and microcephaly
by: ShreyasT.S. Phayde, et al.
Published: (2025-07-01) -
Comprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies
by: Dana Dobešová, et al.
Published: (2025-02-01) -
Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy
by: Shuangxi Cheng, et al.
Published: (2025-05-01) -
Microcephaly, an etiopathogenic vision
by: Luis Eduardo Becerra-Solano, et al.
Published: (2021-07-01) -
Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management
by: Yilun Tao, et al.
Published: (2025-04-01)