Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 7-8, 2013, Pages 771-774

  Faienza, Maria Felicia ^a   Acquafredda, Angelo ^a   D'Aniello, Mariangela ^a   Soldano, Lucia ^a   Marzano, Flaviana ^b   Ventura, Annamaria ^a   Cavallo, Luciano ^a  

^a UNIVERSITY OF BARI   (Italy)

^b CNR   (Italy)

Author keywords

Dwarfism; Hepatic insufficiency; MOPD II; RhiGF 1

Indexed keywords

RECOMBINANT SOMATOMEDIN C;

ADENOHYPOPHYSIS; ARTICLE; ASCITES; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BONE AGE; BONE DYSPLASIA; BONE MATURATION; CASE REPORT; CHILD; CLINODACTYLY; DWARFISM; ECHOCARDIOGRAPHY; EDEMA; FACE DYSMORPHIA; FEMUR HEAD; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEART DISEASE; HETEROZYGOSITY; HUMAN; HYDROCELE; INTRAUTERINE GROWTH RETARDATION; INTRON; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FAILURE; MAGNETIC RESONANCE ANGIOGRAPHY; MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE 2; MALE; MEDICATION COMPLIANCE; MICROCEPHALY; MICROGNATHIA; MICROPENIS; MOLECULAR DIAGNOSIS; MYELINATION; NEUROIMAGING; POSTNATAL GROWTH; PRESCHOOL CHILD; RADIOGRAPHY; SCANTY HAIR; SECKEL SYNDROME; SMALL FOR DATE INFANT;

BODY HEIGHT; BODY WEIGHT; CHILD; DWARFISM; FETAL GROWTH RETARDATION; HEPATIC INSUFFICIENCY; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MICROCEPHALY; OSTEOCHONDRODYSPLASIAS; RECOMBINANT PROTEINS;

EID: 84881529026     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0397     Document Type: Article

References (10)

1. Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings. Am J Med Genet A 2004;130A: 55 - 72.
2. Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 2008;40:232 - 6.
3. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008;319:816 - 9.
4. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A 2012;158A:2719 - 25.
5. Rauch A. The shortest of the short: Pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab 2011;25:125 - 30.
6. Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 1982;12:23 - 35.
7. Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, et al. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 2011;60: 925 - 35.
8. Juul A. Serum levels of insulin-like growth factor I and its binding proteins in health and disease. Growth Horm IGF Res 2003;13:113 - 70.
9. Conchillo M, de Knegt RJ, Payeras M, Quiroga J, Sangro B, et al. Insulin-like growth factor I (IGF-I) replacement therapy increases albumin concentration in liver cirrhosis: results of a pilot randomized controlled clinical trial. J Hepatol 2005;43:630 - 6.
10. Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr 2005;94:1232- 7.