| congenital hypoplastic anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |
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| congenital hypothyroidism | Lack of thyroid secretion. See: infantile hypothyroidism. (05 Mar 2000) |
| congenital ichthyosiform erythroderma | A genodermatosis characterised by diffuse chronic erythema and scale formation which may be separated into bullous and nonbullous forms. Synonym: ichthyosiform erythroderma, ichthyosis spinosa, keratoma malignum. (05 Mar 2000) |
| congenital infection: torchs syndrome | <radiology> T Toxoplasma, R Rubella, C Cytomegalic inclusion disease (CID, CMV), H Herpes, S Syphilis, transplacentally acquired, congenital infection, celery-stalk metaphyses, especially long bones, intracranial calcification, decreased growth, vascular stenosis (aorta, pulmonary artery) (12 Dec 1998) |
| congenital insensitivity to pain | <radiology> Autosomal recessive, neuropathic joints, micro- and macrofractures, epiphyseal separation, osteomyelitis (mandible, fingers, toes) Differential diagnosis: congenital insensitivity to pain with anhidrosis (autosomal recessive), hereditary sensory radicular neuropathy (autosomal recessive), congenital sensory neuropathy (autosomal dominant), familial dysautonomia (autosomal recessive), Lesch-Nyhan syndrome (X recessive) (12 Dec 1998) |
| congenital kidney abnormalities | Kidney abnormalities that are present from birth (for example polycystic kidneys). (27 Sep 1997) |
| congenital leukoderma | The absence of pigmentation in the hair, skin and eyes, usually autosomal recessive. Inheritance: autosomal recessive. (27 Sep 1997) |
| congenital lobar emphysema | <radiology> Caused by bronchial cartilage abnormality, SOLID mass at birth: dilated alveoli filled with foetal lung fluid, usually in UPPER lobes (including RML), Treatment: surgical lobectomy Cf: cystic adenomatoid malformation (12 Dec 1998) |
| congenital lymphedema | Permanent pitting oedema usually confined to the legs; two types, congenital (Milroy's disease ), or with onset at about the age of puberty (Meige's disease ); autosomal dominant inheritance. (05 Mar 2000) |
| congenital malformation | Abnormal formation of a structure evident at birth. (12 Dec 1998) |
| congenital megacolon | A congenital condition which results in an enlarged and poorly functioning colon due to abnormal intestinal motility. These patients are at risk for intestinal obstruction. Constipation, vomiting, abdominal distention, poor weight gain, a retarded growth are common. Treatment include the use of a temporary colostomy with later resection of the affected portion of bowel. Symptoms are eliminated in up to 90% of patients after surgery. Outcomes are better with early intervention. (27 Sep 1997) |
| congenital methemoglobinaemia | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |
| congenital myxoedema | Stunted body growth and mental development appearing in the first years of life resulting the inappropriate development of the thymus gland or inadequate maternal intake of iodine during gestation. (27 Sep 1997) |
| congenital nevus | A melanocytic nevus that is visible at birth, is often larger than an acquired nevus, and more frequently involves deeper structures. (05 Mar 2000) |
| congenital nonregenerative anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |