Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

American Journal of Medical Genetics

Volumn 134 A, Issue 2, 2005, Pages 151-157

  Rajab, Anna ^a,f   Hoffmann, K ^b,c   Ganesh, A ^d   Sethu, A U ^e   Mundlos, S ^b,c  

^a MINISTRY OF HEALTH   (Oman)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d SULTAN QABOOS UNIVERSITY   (Oman)

^e KHOULA HOSPITAL   (Oman)

^f NONE   (Oman)

Author keywords

Arthrogryposis; Camptodactyly; Duane anomaly; Escobar syndrome; Furrowed tongue; Lagophthtalmos; Ptosis; Reduced corneal sensations; Retinal vascular tortuosity; Webbing

Indexed keywords

ADOLESCENT; ARTHROGRYPOSIS; ARTICLE; CHILD; CHROMOSOME 11; CHROMOSOME 9; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA DISEASE; DISTAL ARTHROGRYPOSIS SYNDROME; DUANE RETRACTION SYNDROME; ESCOBAR SYNDROME; EYE MALFORMATION; FACIES; FAMILY; FEMALE; GASTROCNEMIUS MUSCLE; GENE LOCUS; GENETIC VARIABILITY; HUMAN; HYPOPITUITARISM; INFANT; LAGOPHTHALMOS; MALE; MUSCLE ATROPHY; OMAN; PRIORITY JOURNAL; PURSED MOUTH; RETINA BLOOD VESSEL OCCLUSION; SCOLIOSIS; TONGUE DISEASE; WEBBED NECK;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; LIP; MALE; OMAN; PTERYGIUM; SCOLIOSIS; SYNDROME; TONGUE;

EID: 15944422492     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30583     Document Type: Article

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