Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome [2];Síndrome de Schwartz-Jampel tipo 2 frente a síndrome de Stüve-Wiedemann

Anales Espanoles de Pediatria

Volumn 56, Issue 5, 2002, Pages 473-474

  Navarrete Faubel, F E ^a   Perez Aytes A ^a   Pastor Rosado, J ^a   Mascarell Gregori, A ^a  

^a NONE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; BECKWITH WIEDEMANN SYNDROME; BONE DYSPLASIA; CLINICAL FEATURE; GENE LOCUS; HUMAN; HYPERTHERMIA; LETTER; PRESCHOOL CHILD; RESPIRATORY FAILURE; SCHWARTZ JAMPEL SYNDROME; CASE REPORT; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FINGER; LUNG DISEASE; MALE; MULTIPLE MALFORMATION SYNDROME; PYREXIA IDIOPATHICA; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CASE REPORT; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEVER OF UNKNOWN ORIGIN; FINGERS; HUMAN; LUNG DISEASES; MALE; OSTEOCHONDRODYSPLASIAS; SYNDROME; HUMANS;

EID: 4243245483     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Neonatal Schwartz-Jampel syndrome: A common autosomal recessive syndrome in the United Arab Emirates
2. Presentation of six cases of Stüve-Wiedemann syndrome
3. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
4. Congenital Bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2
5. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "lumping"