Congenital anomalies of inferior rectus and its surgical outcomes
Sign Up to like & getrecommendations! Published in 2022 at "Strabismus"
DOI: 10.1080/09273972.2022.2098989
Abstract: ABSTRACT Congenital inferior rectus hypoplasia and aplasia is a rare abnormality of the extraocular muscles, and it is the second most common after superior oblique muscle aplasia. It has been reported either in isolation or… read more here.
Keywords: rectus hypoplasia; inferior rectus; aplasia; surgical outcomes ... See more keywords
Type V aplasia cutis congenita in a preterm newborn successfully resolved
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Therapy"
DOI: 10.1111/dth.13888
Abstract: Aplasia cutis congenita (ACC) associated with fetus papyraceus is a rare subtype of aplasia cutis categorized as type V in Frieden's classification. It is characterized by stellate lesions in a symmetrical distribution over the trunk… read more here.
Keywords: cutis congenita; aplasia cutis; aplasia; type aplasia ... See more keywords
Mutations in EPHB4 cause human venous valve aplasia
Sign Up to like & getrecommendations! Published in 2021 at "JCI Insight"
DOI: 10.1172/jci.insight.140952
Abstract: Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, with… read more here.
Keywords: cause; valve forming; mutations ephb4; valve ... See more keywords
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1165780
Abstract: Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is… read more here.
Keywords: tibial campomelia; aplasia; fibular aplasia; campomelia oligosyndactyly ... See more keywords
Aplasia cutis congenita: Two case reports and discussion of the literature.
Sign Up to like & getrecommendations! Published in 2017 at "Surgical Neurology International"
DOI: 10.4103/sni.sni_188_17
Abstract: Background Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex.… read more here.
Keywords: cutis congenita; aplasia cutis; aplasia; case ... See more keywords