A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features

Clinical Dysmorphology

Volumn 7, Issue 2, 1998, Pages 109-114

  Morion, J E V ^a,b   Kilby, M D ^a,b,c,d   Rushton, I ^a,b  

^a Clinical Genetics Unit

^b Academic Department of Gynaecology

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Autosomal recessive; Consanguinity; Reduced ossification; Shortened long bones; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CONSANGUINEOUS MARRIAGE; FETUS; FETUS DEATH; FETUS ECHOGRAPHY; FETUS HYDROPS; HUMAN; LETHALITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPONTANEOUS ABORTION;

BONE AND BONES; CARTILAGE; CONSANGUINITY; FEMALE; GENES, LETHAL; GENES, RECESSIVE; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 0031945634     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199804000-00005     Document Type: Article

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