Hirschsprung's disease, distinctive facies, and microcephaly.
نویسندگان
چکیده
منابع مشابه
Hereditary gingival fibromatosis with distinctive facies.
Hereditary gingival enlargement also known as gingivitis or familial elephantiasis is a rare type of gingival enlargement. It appears as an isolated autosomal dominant disorder or maybe associated with other conditions. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized enlargement inhibiting eruption of ...
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Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by progressive and varying degrees of gingival overgrowth. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized gingival enlargement. It can occur as an isolated disorder but can be one feature of a syndrome. Although the clinical and h...
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We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied infections. Immunological studies showed a marked decrease in leucocyte chemotaxis. Clinical and laboratory findi...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.4.287