Lethal Neonatal Mandibuloacral Dysplasia

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 1, 1996, Pages 52-54

  Seftel, Matthew D ^a   Wright, Colleen A ^a   Po, Patrick Li Wan ^b   De Ravel, Thorny J L ^a,c  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^c NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

Author keywords

Mandibuloacral dysplasia; Progeroid; Wiedemann Raut enstrauch

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; DYSPLASIA; HUMAN; MANDIBLE; NEWBORN; PRIORITY JOURNAL; RADIOGRAPHY;

CLAVICLE; HUMANS; HYPOSPADIAS; INFANT, NEWBORN; MALE; MANDIBLE; SYNDROME;

EID: 0029965626     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P     Document Type: Article

References (2)

1. Le Merrer M, Guillot M, Briard M-L, Maroteaux P (1991): Lethal progeroid syndrome with osteolysis. Case Report. Ann Génét (Paris) 34:82-84.
2. Tenconi R, Miotti F, Miotti A, Audino G, Ferro R, Clementi M (1986): Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy? Am J Med Genet 24:357-364.