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Clinical Features Sheba et al. (1968) and Shani et al. (1974) described a kindred from an inbred Christian Arab group living in Israel in which 8 of 28 children in 2 sibships had protein-losing enteropathy.
Clinical Features Gottron (1940) reported a brother and sister, aged 16 and 19 years, whose hands and feet had appeared old since infancy because of thin skin. General physical and mental development were normal. Less severe skin atrophy was present elsewhere. Huttova et al. (1967) also described affected sibs. The disorder is often misdiagnosed as the Ehlers-Danlos syndrome (EDS). Indeed, this may be Ehlers-Danlos syndrome type IV (130050). Some of the features are seen in mandibuloacral dysplasia (248370). De Groot et al. (1980) defended the existence of acrogeria as an entity distinct from EDS IV.
Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities. In general, the symptoms do not appear to get worse over time. Intelligence is normal. The cause is unknown, although several genes have been associated with it. Both autosomal recessive and autosomal dominant inheritance have been reported.
Broekaert et al. (2018) reported a male infant, born to first-cousin parents of Turkish descent, who at the age of 9 days developed watery diarrhea and polyuria with hyponatremia, hypomagnesemia, hypocalcemia, and metabolic acidosis. His albumin level dropped from 28 to 4g/L by day 12 of life, and he also had markedly elevated gamma-GT (see 612346).
A number sign (#) is used with this entry because of evidence that diarrhea-7 (DIAR7) is caused by homozygous mutation in the DGAT1 gene (604900). One such family has been reported. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). Clinical Features Haas et al. (2012) reported a family of Ashkenazi Jewish descent with 2 of 3 children affected by congenital diarrhea. Both affected children presented 3 days after birth with severe intractable diarrhea; 1 child died from complications at age 17 months. The second child showed marked improvement, with resolution of most symptoms at 10 to 12 months of age.
Korver-Keularts et al. (2015) reported follow-up of the patient originally reported by Bakker et al. (1993), who was now 28 years of age. He had a mild mitochondrial myopathy manifest as exercise intolerance and early signs of hypertrophic cardiomyopathy without muscle weakness or external ophthalmoplegia.
A number sign (#) is used with this entry because Sengers syndrome, also known as cardiomyopathic mitochondrial DNA depletion syndrome-10 (MTDPS10), is caused by homozygous or compound heterozygous mutation in the AGK gene (610345) on chromosome 7q34. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). Description Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. Clinical description Clinical features include congenital cataract (total or rapidly progressive), hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. CCM may present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Sengers syndrome" – news · newspapers · books · scholar · JSTOR ( April 2018 ) ( Learn how and when to remove this template message ) Senger's syndrome Autosomal recessive pattern is the inheritance manner of this condition Causes Mutations in the AGK and SLC25A4 genes Sengers syndrome is a rare autosomal recessive condition characterised by congenital cataract , hypertrophic cardiomyopathy , muscle weakness and lactic acidosis after exercise. Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] There are two forms of the disease - a lethal neonatal form and a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half. Death in the first year is usually due to cardiac failure . Marked lactic acidemia occurs with even limited muscular exertion. The chronic form have stable cardiomyopathy and myopathy with a normal intellect.
