| 释义 |
congenital total lipodystrophy con·gen·i·tal to·tal lip·o·dys·tro·phy [MIM*269700] characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3-4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance. Synonym(s): Berardinelli syndrome, Seip syndromecon·gen·i·tal to·tal lip·o·dys·tro·phy (kŏn-jen'i-tăl tō'tăl lip'ō-dis'trŏ-fē) Characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3-4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance.
Synonym(s): Berardinelli syndrome, Seip syndrome. |