Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function [PDF]
, 2015 BACKGROUND: Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus.
Bertelsen, Birgitte +6 more
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Orodental findings in Hallermann-Streiff syndrome
Indian Journal of Dental Research, 2012 Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital ...
Shilpa Parikh, Swati Gupta
doaj +1 more source
Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]
Journal of Mashhad Dental School, 2020 Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad +2 more
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A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]
, 1996 6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia +5 more
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Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
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X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
Genetics Selection Evolution, 2003 Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord +2 more
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Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]
, 2018 Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária +4 more
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Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]
, 2016 IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G +11 more
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Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
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Monilethrix: A rare case diagnosed by dermoscopy
Indian Journal of Paediatric Dermatology, 2020 Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani +3 more
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