New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1915-1918

  Stevens, Cathy A ^a   Lachman, Ralph S ^b  

^a UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Bone dysplasia; Dandy Walker malformation; Dwarfism; Lethal dysplasia; Radial ray abnormality; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CALCANEUS; CASE REPORT; CLAVICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DANDY WALKER SYNDROME; DISEASE SEVERITY; DWARFISM; ECHOCARDIOGRAPHY; FACIES; FEMALE; FEMUR MALFORMATION; FETUS ECHOGRAPHY; GENITAL MALFORMATION; HUMAN; HYPOPLASIA; JOINT CONTRACTURE; LETHALITY; LIMB DEFECT; LUNG HYPOPLASIA; MALE; NEWBORN; OSSIFICATION; PRIORITY JOURNAL; PROGNOSIS; RADIODIAGNOSIS; SIBLING; STILLBIRTH; TALUS; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; DANDY-WALKER SYNDROME; FACE; FATAL OUTCOME; FEMALE; GENITALIA; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MUSCULOSKELETAL ABNORMALITIES; THUMB;

EID: 77955295256     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33488     Document Type: Article

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