New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis

American Journal of Medical Genetics

Volumn 69, Issue 1, 1997, Pages 73-78

  Johnson, Virginia P ^a   Keppen, Laura D ^a   Carpenter, Mary S ^b   Randall, Brad B ^a   Newby, Paul E ^a  

^a UNIVERSITY OF SOUTH DAKOTA   (United States)

^b Family Practice Associates of Winner   (United States)

Author keywords

cleft palate; congenital arthrogryposis; hypoplastic lungs; lethal multiple pterygium; maxillary and mandibular hypoplasia; spondylothoracic dysostosis

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLEFT PALATE; DWARFISM; DYSOSTOSIS; FEMALE; FETUS; HUMAN; LORDOSIS; LUNG HYPOPLASIA; MANDIBLE HYPOPLASIA; MAXILLA HYPOPLASIA; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; PTERYGIUM; SPINE MALFORMATION; SYNDROME DELINEATION; THORACIC SPINE;

ARTHROGRYPOSIS; DYSOSTOSES; FEMALE; HUMANS; INFANT, NEWBORN; PTERYGIUM; SYNDROME; THORACIC VERTEBRAE;

DECAPODA (CRUSTACEA);

EID: 0031051373     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970303)69:1<73::AID-AJMG14>3.0.CO;2-L     Document Type: Article

References (7)

1. Ayme S, Preus M (1986): Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 24:599-606.
2. Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM, Gilbert EF, Langer LO, Shapiro LR, Duncan PA (1984): Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome. Am J Med Genet 17:809-826.
3. Karnes PS, Day D, Berry SA, Pierpont ME (1991): Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 40:264-270.
4. Morrissy RT (1990): "Pediatric Orthopedics." 3rd ed. Philadelphia: J.B. Lippincott, p 6.
5. Mortier GR, Lachman RS, Bocian M, Rimoin DL (1996): Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 61:310-319.
6. Perez-Comas A, Garcia-Castro JM (1974): Occipito-facial-cervicothoracic-abdominal-digital dysplasia: Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 85:388-391.
7. Turkel SB, Iseri AL, Fujimoto AO (1980): Malformation complex spondylohypoplasia, arthrogryposis and popliteal pterygium. Am J Dis Child 134:42-45.