A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1333-1346

  Kosho, Tomoki ^a   Miyake, Noriko ^b   Hatamochi, Atsushi ^c   Takahashi, Jun ^a   Kato, Hiroyuki ^a   Miyahara, Teruyoshi ^a   Igawa, Yasuhiko ^a   Yasui, Hiroshi ^d   Ishida, Tadao ^d   Ono, Kurahito ^e   Kosuda, Takashi ^e   Inoue, Akihiko ^e   Kohyama, Mohei ^f   Hattori, Tadashi ^g   Ohashi, Hirofumi ^h   Nishimura, Gen ⁱ   Kawamura, Rie ^a   Wakui, Keiko ^a   Fukushima, Yoshimitsu ^a   Matsumoto, Naomichi ^b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d SAPPORO MEDICAL UNIVERSITY   (Japan)

^e Tomioka General Hospital   (Japan)

^f JA Hiroshima General Hospital at Jigozen   (Japan)

^g AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^h SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

ⁱ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

A new type Ehlers Danlos syndrome; Craniofacial characteristics; Joint laxity; Kyphoscoliosis; Multiple congenital contractures; Multisystem fragility; Recurrent subcutaneous hematomas; Skin laxity; Talipes deformities

Indexed keywords

ANTIBIOTIC AGENT; CARTEOLOL; CONJUGATED ESTROGEN; DESMOPRESSIN; FRESH FROZEN PLASMA; LATANOPROST; LAXATIVE; MAGNESIUM OXIDE; PROBIOTIC AGENT; PROTON PUMP INHIBITOR; TIMOLOL;

ACROGERIA; ADOLESCENT; ADULT; ANTERIOR FONTANEL; ARTICLE; BONE MALFORMATION; CAPILLARY RESISTANCE; CHILD; CLINICAL ARTICLE; COLON PERFORATION; CONSTIPATION; CONTRACTURE; CRANIOFACIAL MALFORMATION; DIGESTIVE SYSTEM PERFORATION; DIVERTICULITIS; DIVERTICULOSIS; EHLERS DANLOS SYNDROME; FACE ASYMMETRY; FEMALE; FLATFOOT; GLAUCOMA; HEMATOMA; HEMATOPNEUMOTHORAX; HIP DISLOCATION; HUMAN; HYPERTELORISM; INFECTION; JOINT DISLOCATION; JOINT LAXITY; KYPHOSCOLIOSIS; LOW SET EAR; MALE; MICROSTOMIA; MUSCLE MALFORMATION; MUSCULOSKELETAL SYSTEM MALFORMATION; NOSE MALFORMATION; PALATE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PES CAVUS; PES EQUINOVARUS; PES VALGUS; PHILTRUM; PNEUMOTHORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; REFRACTION ERROR; RETROGNATHIA; SCAR; SCLERA DISEASE; SCOLIOSIS; SHORT NOSE; SKIN CYST; SKIN FISTULA; SKIN INFECTION; SKIN MANIFESTATION; STOMACH OBSTRUCTION; STRABISMUS; TALIPES EQUINOVARUS; THORAX MALFORMATION; VALVULAR HEART DISEASE; WRINKLE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD, PRESCHOOL; CONTRACTURE; CRANIOFACIAL ABNORMALITIES; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; JAPAN; JOINTS; MALE; SKIN ABNORMALITIES; YOUNG ADULT;

COLUMELLA; FISTULA; VALGUS;

EID: 77952757738     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33498     Document Type: Article

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