Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?) - A distinct syndrome?

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 539-546

  Sousa, Sérgio B ^a,b   Baujat, Geneviéve ^a   Abadie, Véronique ^a   Bonnet, Damien ^a   Sidi, Daniel ^a   Munnich, Arnold ^a   Krakow, Deborah ^c,d   Cormier Daire, Valérie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c Departments of Orthopedic Surgery   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Brainstem dysfunction; Deafness; Facial dysmorphism; Failure to thrive; Inner ear malformation; Polyvalvular dysplasia; Postnatal growth retardation; Spondylocarpal synostosis

Indexed keywords

GROWTH HORMONE; NOGGIN;

ANAMNESIS; ARTICLE; BONE AGE; BRACHYDACTYLY; CARDIOSPONDYLOCARPOFACIAL SYNDROME; CARPAL COALITION; CASE REPORT; CERVICAL SPINE SYNOSTOSIS; CHILD; CONGENITAL MALFORMATION; DIAGNOSTIC IMAGING; DYSTOPIA CANTHORUM; DYSTROPHY; FEMALE; HUMAN; HYPERTELORISM; LORDOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; SHORT STATURE; STRABISMUS; SYNOSTOSIS;

EID: 77649207605     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33277     Document Type: Article

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