Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Prenatal Diagnosis

Volumn 24, Issue 11, 2004, Pages 918-922

  Nazzaro, Alfredo ^a   Della Monica, Matteo ^a   Lonardo, Fortunato ^a   Di Blasi, Arturo ^a   Baffico, Maria ^b   Baldi, Maurizia ^b   Nazzaro, Giovanni ^c   De Placido, Giuseppe ^c   Scarano, Gioacchino ^a  

^a G RUMMO HOSPITAL   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Craniosynostosis; FGFR2; Pfeiffer syndrome; Prenatal diagnosis; Trp290Cys; Ultrasound

Indexed keywords

AMINO ACID; CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; TRYPTOPHAN;

ACROCEPHALOSYNDACTYLY; ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; DNA DETERMINATION; EXOPHTHALMOS; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC HETEROGENEITY; HUMAN; HYPERTELORISM; MIDFACE HYPOPLASIA; MISSENSE MUTATION; NOSE MALFORMATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; THUMB MALFORMATION;

ABORTION, INDUCED; ACROCEPHALOSYNDACTYLIA; ADULT; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; HUMANS; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL; ULTRASONOGRAPHY, PRENATAL;

EID: 3543112359     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.844     Document Type: Review

References (19)

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