Adams-Oliver syndrome.
نویسندگان
چکیده
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 cutis on the scalp. There was no systemic involvement. The patient was placed on regular follow-up.
منابع مشابه
Adams Oliver Syndrome and Congenital Deafness
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 defor...
متن کاملSevere phenotype in two half-sibs with Adams Oliver syndrome.
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...
متن کاملA Case of Adams–Oliver Syndrome
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...
متن کاملAdams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
BACKGROUND To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). MATERIAL/METHODS Brain MRI and MR angiography were performed at 1.5T. RESULTS The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. CONCLUSIONS Abnormalities of CNS are an unusual manifestation of AOS. T...
متن کاملDLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
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ورودعنوان ژورنال:
- Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
دوره 24 Suppl 2 شماره
صفحات -
تاریخ انتشار 2014