publication . Article . Other literature type . 2011

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

F. Kortüm; M. Chyrek; S. Fuchs; B. Albrecht; G. Gillessen-Kaesbach; U. Mütze; E. Seemanova; S. Tinschert; D. Wieczorek; G. Rosenberger; ...
Open Access English
  • Published: 12 Nov 2011
  • Publisher: Karger
  • Country: Germany
Abstract
Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The genetic cause of this developmental disorder is presently unknown. Here we describe 8 new patients with a phenotype of HSS. Individuals with HSS present with clinical features overlapping with some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysp...
Subjects
Medical Subject Headings: integumentary systemcongenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
free text keywords: Hallermann-Streiff-Syndrom, Hutchinson-Gilford-Progerie-Syndrom, ICMT, Laminopathie, LMNA, mandibuloakrale Dysplasie, ZMPSTE24, Hallermann-Streiff syndrome, Hutchinson-Gilford progeria syndrome, ICMT, Laminopathy, LMNA ,Mandibuloacral dysplasia, ZMPSTE24, ddc:570, ddc:610, Original Article, Genetics(clinical), Genetics, Microphthalmia, medicine.disease, medicine, Laminopathy, Progeroid syndromes, Mandibuloacral dysplasia, Missense mutation, Hallermann–Streiff syndrome, Pathology, medicine.medical_specialty, Biology, LMNA, Progeria
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