Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.
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.
Morice-Picard
Fanny
F
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.
Marlin
Sandrine
S
Rooryck
Caroline
C
Fayon
Mickael
M
Thambo
Jeao-Benoît
JB
Demarquez
Jean-Louis
JL
Fauroux
Brigitte
B
Denoyelle
Francoise
F
Lacombe
Didier
D
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*