Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 852-857

  Wenger, Tara L ^a   Bhoj, Elizabeth J ^b   Wetmore, Ralph F ^b   Mennuti, Michael T ^c   Bartlett, Scott P ^b   Mollen, Thomas J ^b   Mcdonald Mcginn, Donna M ^b   Zackai, Elaine H ^b  

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Beare Stevenson cutis gyrata syndrome; Craniosynostosis; FGFR2; Sudden death; Tracheal cartilaginous sleeve

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 PROTEIN, HUMAN;

ARTICLE; BEARE STEVENSON SYNDROME; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHOANA ATRESIA; CLITORIS; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; EXOPHTHALMOS; FEMALE; FGFR2 GENE; GENE; GENE MUTATION; HEMANGIOMA; HOLOPROSENCEPHALY; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYPERTELORISM; HYPERTRICHOSIS; INFANT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INTUBATION; TRACHEAL CARTILAGINOUS SLEEVE; ACANTHOSIS NIGRICANS; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; EAR; ECHOGRAPHY; FATALITY; FETUS ECHOGRAPHY; GENETICS; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NUCLEOTIDE SEQUENCE; SKIN DISEASE; TRACHEA;

ABNORMALITIES, MULTIPLE; ACANTHOSIS NIGRICANS; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; EAR; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION, MISSENSE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SCALP DERMATOSES; SKIN ABNORMALITIES; TRACHEA; ULTRASONOGRAPHY, PRENATAL;

EID: 84925698748     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36985     Document Type: Article

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