X-linked dominant chondrodysplasia punctata: Prenatal diagnosis and autopsy findings

Prenatal Diagnosis

Volumn 26, Issue 13, 2006, Pages 1235-1240

  Umranikar, Shalini ^a,e   Glanc, Phyllis ^a   Unger, Sheila ^b   Keating, Sarah ^c   Fong, Katherine ^c   Trevors, Christopher D ^d   Myles Reid, Diane ^c,d   Chitayat, David ^c,d  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF FREIBURG   (Germany)

^c MOUNT SINAI HOSPITAL   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e KEM HOSPITAL   (India)

Author keywords

CDPX2; Chondrodysplasia punctata; Conradi h nermann happle syndrome; Skeletal dysplasia; Ultrasound

Indexed keywords

EMOPAMIL; ISOMERASE;

ALOPECIA; ANAMNESIS; ARTICLE; AUTOPSY; CARTILAGE; CHEMICAL ANALYSIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; ECHOGRAPHY; ENZYME DEFICIENCY; GENE MUTATION; GESTATION PERIOD; HUMAN; INTERMETHOD COMPARISON; PHENOTYPE; POSTHUMOUS CARE; PREGNANCY TERMINATION; PREMATURITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIOGRAPHY; RIB MALFORMATION; SCOLIOSIS; VAGINAL DELIVERY; VERTEBRA BODY; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; AUTOPSY; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENES, DOMINANT; GESTATIONAL AGE; HUMANS; PHENOTYPE; PREGNANCY; STEROID ISOMERASES; ULTRASONOGRAPHY, PRENATAL;

EID: 33845946248     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1594     Document Type: Article

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