Facial appearance in persistent hyperinsulinemic hypoglycemia

American Journal of Medical Genetics

Volumn 111, Issue 2, 2002, Pages 130-133

  De Lonlay, Pascale ^a   Cormier Daire, Valérie ^a   Amiel, Jeanne ^a   Touati, Guy ^a   Goldenberg, Alice ^a   Fournet, Jean Christophe ^a   Brunelle, Francis ^a   Nihoul Fékété, Claire ^a   Rahier, Jacques ^b   Junien, Claudine ^a   Robert, Jean Jacques ^a   Saudubray, Jean Marie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Pathology Department   (Belgium)

Author keywords

Facial dysmorphic feature; Fetal intoxication; Hyperinsulinism

Indexed keywords

GENE PRODUCT; INSULIN; PROTEIN KIR6.2; SULFONYLUREA RECEPTOR; SULFONYLUREA RECEPTOR TYPE 1; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCC8 PROTEIN, MOUSE; GEM PROTEIN, HUMAN; GLUTAMATE DEHYDROGENASE; GUANOSINE TRIPHOSPHATASE; IMMEDIATE EARLY PROTEIN; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; MULTIDRUG RESISTANCE PROTEIN; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

ADENOMA; ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FACE DYSMORPHIA; FACIES; FOREHEAD; GENE MUTATION; HIGH BIRTH WEIGHT; HUMAN; HYPERAMMONEMIA; HYPERINSULINEMIA; HYPOGLYCEMIA; INFANT; NOSE APEX; PHILTRUM; PRENATAL EXPOSURE; PRIORITY JOURNAL; SYMPTOM; TONGUE DISEASE; UMBILICAL HERNIA; UPPER LIP; CHROMOSOME 11; CONGENITAL MALFORMATION; FACE; FACIAL BONE; GENETICS; HYPERINSULINISM; MUTATION; PRESCHOOL CHILD;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; FACE; FACIAL BONES; GLUTAMATE DEHYDROGENASE; GTP PHOSPHOHYDROLASES; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; IMMEDIATE-EARLY PROTEINS; INFANT; MONOMERIC GTP-BINDING PROTEINS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASE; ATP-BINDING CASSETTE TRANSPORTERS; HUMANS; HYPERINSULINISM; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; PROTEIN-TYROSINE KINASES;

COLUMELLA;

EID: 0037158471     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10463     Document Type: Article

References (17)

1. Concordance of auriculo-cardiovascular-skeletal malformations: A new malformation complex in an infant of a diabetic mother?
2. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus
3. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
4. Clinical features of 52 neonates with hyperinsulinism
5. Familial hyperinsulinism caused by an activating glucokinase mutation
6. Rate and type of congenital anomalies among offspring of diabetic woman
7. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor
8. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
9. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: The pathologist's role
10. Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?
11. Hyperinsulinism in infants and children
12. Hyperinsulinemia and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
13. Neonatal and infantile hypoglycemia due to insulin excess: New aspects of diagnosis and surgical management
14. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
15. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
16. Maternal allele loss with somatic reduction to homozygosity of the paternally-inherited mutation of the SUR1 gene leads to congenital hyperinsulinism in focal islet cell adenomatous hyperplasia of the pancreas