Adams Oliver Syndrome and Congenital Deafness
نویسنده
چکیده مقاله:
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic deformity is a rare associated finding, but onychophagia with out any sign of affection in their parents are specific findings in these two cases.
منابع مشابه
Adams-Oliver syndrome.
A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cuti...
متن کاملAn autopsy case of Adams-Oliver syndrome.
We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28(+6) weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of f...
متن کاملAdams-Oliver syndrome: a case report.
We report the case of an infant with Adams-Oliver syndrome, a rare disorder characterized by aplasia cutis congenita, defects of the limbs and extremities, and cutis marmorata telangiectatica. Other associated anomalies have been reported, such as facial dysmorphism, heart defects, and disorders of the central nervous system.
متن کاملA Case of Adams-Oliver Syndrome
Received March 19, 2009, Revised July 2, 2009, Accepted for publication July 27, 2009 Reprint request to: Deborah Lee, M.D., Department of Dermatology, Busan Paik Hospital, College of Medicine, Inje University, 633-165, Gaegeum-dong, Busanjin-gu, Busan 614-735, Korea. Tel: 82-51-8906135, Fax: 82-51-897-6391, E-mail: [email protected] Ann Dermatol Vol. 22, No. 1, 2010 DOI: 10.5021/ad.2010.22...
متن کاملPeripheral ischemic retinopathy in Adams-Oliver syndrome.
Results. As shown in the Table, by comparison with the GG genotype, the TT genotype was associated with very high risk for all types of ARM, with increasing odds ratios according to the severity of ARM (from 4.60 for early ARM1 to 23.63 and 16.15 for late atrophic and neovascular ARM, respectively). By contrast, associations of the different types of ARM with the GT genotype were modest (OR, 1....
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عنوان ژورنال
دوره 22 شماره 3
صفحات 60- 65
تاریخ انتشار 1998-09
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