title: Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.
abstract: We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients. Both of them have respiratory problems secondary to the classical narrow upper airway described in this syndrome. Both these patients have laterality defects and one has additional structural cardiac malformations. Cardiac defects have occasionally been reported in the HSS literature, but are not considered as a classical feature of the syndrome. Situs inversus has never been reported in this syndrome. Almost all HSS cases have been sporadic and their origin and inheritance pattern remain unknown.
authors.affiliation: Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux Departments of Pediatrics Pediatric Cardiology, CHU de Bordeaux Departments of Pneumology Medical genetics, National Reference Center for congenital and hereditary deafness Oto-rhino-laryngology, CHU Armand Trousseau, Paris, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Mickael
authors.initials: M
authors.lastname: Fayon
authors.forename: Jeao-Benoît
authors.initials: JB
authors.lastname: Thambo
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Demarquez
authors.forename: Brigitte
authors.initials: B
authors.lastname: Fauroux
authors.forename: Francoise
authors.initials: F
authors.lastname: Denoyelle
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D007839:Functional Laterality; D006210:Hallermann's Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D012857:Situs Inversus / Q000601:surgery*