Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

Congenit Anom (Kyoto). 2017 Mar;57(2):64-65. doi: 10.1111/cga.12194.

Authors

Adrijan Sarajlija^{1

2}, Martin Magner³, Maja Djordjevic^{1

2}, Bozica Kecman¹, Blagoje Grujic^{2

4}, Marketa Tesarova³, Predrag Minic^{2

5}

Affiliations

¹ Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
² School of Medicine, University of Belgrade, Belgrade, Serbia.
³ Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
⁴ Department of Abdominal Surgery, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
⁵ Department of Pulmonology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.

PMID: 27649480
DOI: 10.1111/cga.12194

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acidosis, Lactic / diagnosis
Acidosis, Lactic / genetics*
Acidosis, Lactic / pathology
Cardiomyopathy, Hypertrophic / diagnosis
Cardiomyopathy, Hypertrophic / genetics*
Cardiomyopathy, Hypertrophic / pathology
Child, Preschool
Developmental Disabilities / diagnosis
Developmental Disabilities / genetics*
Developmental Disabilities / pathology
Facies
Fatal Outcome
Gene Expression
Hernias, Diaphragmatic, Congenital / diagnostic imaging
Hernias, Diaphragmatic, Congenital / genetics*
Hernias, Diaphragmatic, Congenital / pathology
Hernias, Diaphragmatic, Congenital / surgery
Humans
Hypospadias / diagnosis
Hypospadias / genetics
Hypospadias / pathology
Male
Membrane Proteins / deficiency
Membrane Proteins / genetics*
Microcephaly / diagnosis
Microcephaly / genetics*
Microcephaly / pathology
Mitochondrial Proteins / deficiency
Mitochondrial Proteins / genetics*
Muscle Hypotonia / diagnosis
Muscle Hypotonia / genetics
Muscle Hypotonia / pathology
Mutation

Substances

Membrane Proteins
Mitochondrial Proteins
TMEM70 protein, human