Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive "SAMS" syndrome

American Journal of Medical Genetics

Volumn 110, Issue 4, 2002, Pages 359-364

  Ter Heide, Henriette ^a   Bulstra, Sjoerd K ^a   Reekers, Ad ^b   Schrander, Jaap J P ^a   Schrander Stumpel, Constance T R M ^a,c  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Child Rehab Center Franciscusoord   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Auditory canal atresia; Autosomal recessive; Clubfeet; Genital anomaly; Humeroscapular synostosis; Normal mental development; SAMS syndrome

Indexed keywords

ARTICLE; ATRESIA; AUDITORY CANAL; AUDITORY CANAL ATRESIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CLUBFOOT; FEMALE; GENITAL MALFORMATION; HUMAN; MENTAL DEVELOPMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; SYNOSTOSIS;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CHILD, PRESCHOOL; CLUBFOOT; EAR CANAL; FEMALE; GENES, RECESSIVE; GENITALIA, FEMALE; GROWTH DISORDERS; HUMANS; HYPERPLASIA; KARYOTYPING; MANDIBLE; SYNDROME;

EID: 0037100016     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10441     Document Type: Article

References (6)

1. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
2. Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears
3. SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
4. Multiple skeletal, genital and ear anomalies in a patient with presumed normal intelligence: A newly recognized autosomal recessive entity?
5. Auditory canal atresia, humeroscapular synostosis and other skeletal anomalies in patients with normal intelligence: A rare "newly" recognized autosomal recessive entity(?)
6. Auricular malformations combined with shoulder and hip hypoplasia; another variant of acrofacial dysostosis