APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME
نویسندگان
چکیده
منابع مشابه
Sotos syndrome and cutis laxa.
Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report...
متن کاملCutis Laxa syndrome: a case report
Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a prev...
متن کاملneurological findings in cutis laxa syndromes; identification of a new cutis laxa gene
cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin. the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance. autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00595