Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood. There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern. Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types.
A number sign (#) is used with this entry because of evidence that isolated growth hormone deficiency type V (IGHD5) is caused by compound heterozygous mutation in the RNPC3 gene (618016) on chromosome 1p21. One such family has been reported. For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. Description Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014). Clinical Features Argente et al. (2014) reported 3 sisters, born with normal length to normal-statured nonconsanguineous parents, who developed severe postnatal proportionate growth retardation. They showed features typical of growth hormone (GH; see 139250) deficiency, including marked short stature, frontal bossing, cherubic face, mild microcephaly, delayed bone maturation without bone dysplasia, and otherwise normal development.
The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas . Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite.
. ^ "Academic Journals formerly published by NPG" . Retrieved 28 December 2016 . ^ Dhurandhar, Nikhil V.; Whigham, Leah D.; Abbott, David H.; Schultz-Darken, Nancy J.; Israel, Barbara A.; Bradley, Steven M.; Kemnitz, Joseph W.; Allison, David B.; Atkinson, Richard L. (1 October 2002).
International Committee on Taxonomy of Viruses (ICTV) . Retrieved 28 January 2019 . ^ Public Health Agency of Canada: Machupo Virus Pathogen Safety Data Sheet , http://www.phac-aspc.gc.ca/lab-bio/res/psds-ftss/machupo-eng.php , Date Modified: 2011-02-18. ^ "Machupo" .
Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
. ^ Simeoni, S. et al. (2008) Systemic sclerosis and superficial siderosis of the central nervous system: casuality or causality? Rheumatol. Int. , 28, 815-818. ^ Levy, Michael. "Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis" . ^ Sydlowski, S.A. et al. (2009) Cochlear implant patients with superficial siderosis.
Drug and Alcohol Dependence . 146 : e134–e135. doi : 10.1016/j.drugalcdep.2014.09.284 . Retrieved 28 November 2017 . ^ Kish, Stephen J.; Boileau, Isabelle; Callaghan, Russell C.; Tong, Junchao (2017).
Clinical Features Hewitt et al. (1989) reported a fetus with holoprosencephaly and polydactyly and a normal karyotype. They cited 2 similar reports (Young and Madders, 1987; Moerman and Fryns, 1988). Because holoprosencephaly and polydactyly are features of trisomy 13, Hewitt et al. (1989) suggested the designation pseudotrisomy 13. Cohen and Gorlin (1991) used the term pseudotrisomy 13 syndrome to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. They summarized 11 examples. They concluded that the cases reported by Bachman et al. (1990) were instances of this syndrome and not of the hydrolethalus syndrome (see 236680).
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term). Epidemiology Incidence is unknown. Clinical description Dysmorphic features include hypotelorism, severe eye anomalies such as microphtalmia or anophtalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. Antenatal diagnosis Antenatal diagnosis is possible by ultrasonographic monitoring. Genetic counseling The condition seems to be inherited as an autosomal recessive trait. Prognosis Prognosis is poor.
Archived from the original (PDF) on February 19, 2012 . Retrieved August 28, 2009 . 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"Social and Psychological Influences on Emerging Adult Drinking Behavior" . Alcohol Research & Health . 28 (4): 182–190. ISSN 1535-7414 . PMC 6601679 . ^ a b c d e Foltran, F., Gregori, D., Franchin, L., Verduci, E., & Giovannini, M. (2011).
Contents 1 Background 2 Treatment 3 See also 4 References Background [ edit ] Nigeria is emerging from a period of military rule that accounted for almost 28 of the 47 years since independence in 1960 .
