Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

American Journal of Medical Genetics

Volumn 78, Issue 2, 1998, Pages 146-149

  Cormier Daire, V ^a   Superti Furga, A ^a   Munnich, A ^a   Lyonnet, S ^a   Rustin, P ^a   Delezoide, A L ^a   De Lonlay, P ^a   Giedion, A ^a   Maroteaux, P ^a   Le Merrer, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Bowing disorder; Recessive inheritance; Schwartz Jampel syndrome; Stiive Wiedemann syndrome

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BONE MALFORMATION; CHILD; CLINICAL ARTICLE; FEMALE; HUMAN; HYPERTHERMIA; LETHALITY; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCHWARTZ JAMPEL SYNDROME; SHORT STATURE; CHONDRODYSPLASIA; COMPARATIVE STUDY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; RADIOGRAPHY; RESPIRATORY FAILURE; SYNDROME;

ABNORMALITIES, MULTIPLE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; OSTEOCHONDRODYSPLASIAS; RESPIRATORY INSUFFICIENCY; SYNDROME;

EID: 0032580788     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980630)78:2<146::AID-AJMG9>3.0.CO;2-M     Document Type: Article

References (14)