A second family with autosomal recessive spondylometaphyseal dysplasia and early death

American Journal of Medical Genetics, Part A

Volumn 164, Issue 4, 2014, Pages 1010-1014

  Mégarbané, André ^a   Mehawej, Cybel ^a   Zahr, Amir El ^b   Haddad, Soha ^c   Cormier Daire, Valérie ^d  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b Neonatology Unit Hopital Rayak   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Chondrodysplasia; Delayed bone age; Early death; Platyspondyly; Short stature

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE AUTOSOMAL RECESSIVE; AUTOSOMAL RECESSIVE DISORDER; BONE AGE; BONE DYSPLASIA; BONE MALFORMATION; BONE RADIOGRAPHY; BONE REMODELING; CARDIOMEGALY; CARDIOVASCULAR MORTALITY; CASE REPORT; CHILD; CHILDHOOD MORTALITY; CLINICAL FEATURE; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FEMALE; HEART FAILURE; HUMAN; KARYOTYPING; MALE; OSSIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; CHONDRODYSPLASIA; DEVELOPMENTAL DISORDER; GENETICS; RECESSIVE GENE; SIBLING;

WORMIA;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; GENES, RECESSIVE; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; SIBLINGS;

EID: 84896315743     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36372     Document Type: Article

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