Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 282-287

  Kosho, Tomoki ^a   Takahashi, Jun ^a   Ohashi, Hirofumi ^b   Nishimura, Gen ^c   Kato, Hiroyuki ^a   Fukushima, Yoshimitsu ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Characteristic facies; Ehlers Danlos syndrome type VIB; Fragile skin; Recurrent hematomas; Skeletal abnormalities

Indexed keywords

ADOLESCENT; ARTICLE; ATROPHIC SKIN DISEASE; BLADDER MALFORMATION; CASE REPORT; CLINICAL FEATURE; CONSTIPATION; CYSTITIS; EHLERS DANLOS SYNDROME; FACIES; FEMALE; FUNNEL CHEST; HEARING IMPAIRMENT; HEMATOMA; HUMAN; HYPERTELORISM; HYPOPLASIA; JOINT CONTRACTURE; JOINT LAXITY; LOW SET EAR; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; PES EQUINOVARUS; PES VALGUS; PRIORITY JOURNAL; RECURRENT INFECTION; SCAR FORMATION; SCHOOL CHILD; SCLERA; SCOLIOSIS; SHORT NOSE; SKELETON MALFORMATION; SKIN DISEASE; SPINE MALFORMATION; STRABISMUS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CLUBFOOT; CONSANGUINITY; CONTRACTURE; EHLERS-DANLOS SYNDROME; FACIES; FEMALE; HAND DEFORMITIES; HUMANS; INFANT; INFANT, NEWBORN; SPINAL CURVATURES;

COLUMELLA; VALGUS;

EID: 25644455296     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30965     Document Type: Article

References (13)

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