نتایج جستجو برای: aplasia cutis congenita
تعداد نتایج: 11513 فیلتر نتایج به سال:
aplasia cutis congenita is a rare anomaly presenting with the absence of skin. no definite etiology is available. the most common site is the scalp. we present an instance with acc occurring symmetrically in both sides of the body from chest to flank.
Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weig...
Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia c...
Aplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of sk...
UNLABELLED Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. OBJECTIVE. To present a family with two half siblings with a severe pheno...
Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the di...
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