BIOMAT Database Logo BIOMAT Database Logo

Prenatal diagnosis of Pfeiffer syndrome type II. 2004

Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. bettina.blaumeiser@uia.ua.ac.be

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011379 Prognosis A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations. Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D003398 Craniosynostoses Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. Acrocephaly,Oxycephaly,Brachycephaly,Craniostenosis,Craniosynostosis,Craniosynostosis, Lambdoidal,Craniosynostosis, Type 1,Lambdoid Synostosis,Metopic Synostosis,Plagiocephaly, Craniosynostosis,Plagiocephaly, Synostotic,Sagittal Synostosis,Scaphocephaly,Synostotic Anterior Plagiocephaly,Synostotic Posterior Plagiocephaly,Trigonocephaly,Unilateral Coronal Synostosis,1 Craniosynostoses, Type,1 Craniosynostosis, Type,Anterior Plagiocephaly, Synostotic,Coronal Synostoses, Unilateral,Coronal Synostosis, Unilateral,Craniostenoses,Craniosynostose,Craniosynostoses, Lambdoidal,Craniosynostoses, Type 1,Craniosynostosis Plagiocephaly,Lambdoid Synostoses,Lambdoidal Craniosynostoses,Lambdoidal Craniosynostosis,Metopic Synostoses,Plagiocephaly, Synostotic Anterior,Plagiocephaly, Synostotic Posterior,Posterior Plagiocephaly, Synostotic,Sagittal Synostoses,Synostoses, Lambdoid,Synostoses, Metopic,Synostoses, Sagittal,Synostoses, Unilateral Coronal,Synostosis, Lambdoid,Synostosis, Metopic,Synostosis, Sagittal,Synostosis, Unilateral Coronal,Synostotic Plagiocephaly,Type 1 Craniosynostoses,Type 1 Craniosynostosis,Unilateral Coronal Synostoses
D005260 Female Females
D005865 Gestational Age The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination. Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000168 Acrocephalosyndactylia Congenital craniostenosis with syndactyly. Apert Syndrome,Pfeiffer Syndrome,Saethre-Chotzen Syndrome,Acrocephalosyndactyly (Apert),Acrocephalosyndactyly III,Acrocephalosyndactyly, Type 1,Acrocephalosyndactyly, Type 3,Acrocephalosyndactyly, Type I,Acrocephalosyndactyly, Type II,Acrocephalosyndactyly, Type III,Acrocephalosyndactyly, Type V,Acrocephaly, Skull Asymmetry, and Mild Syndactyly,Apert-Crouzon Disease,Chotzen Syndrome,Craniofacial-Skeletal-Dermatologic Dysplasia,Dysostosis Craniofacialis with Hypertelorism,Kurczynski Casperson Syndrome,Noack Syndrome,Syndactylic Oxycephaly,Acrocephalosyndactylias,Acrocephalosyndactylies, Type 1,Acrocephalosyndactylies, Type 3,Acrocephalosyndactylies, Type I,Acrocephalosyndactylies, Type II,Acrocephalosyndactylies, Type III,Acrocephalosyndactylies, Type V,Acrocephalosyndactyly IIIs,Apert Crouzon Disease,Disease, Apert-Crouzon,Noack Syndromes,Saethre Chotzen Syndrome,Syndactylic Oxycephalies,Syndrome, Apert,Syndrome, Chotzen,Syndrome, Kurczynski Casperson,Syndrome, Noack,Syndrome, Pfeiffer,Syndrome, Saethre-Chotzen,Syndromes, Noack,Type I Acrocephalosyndactylies,Type I Acrocephalosyndactyly,Type II Acrocephalosyndactylies,Type II Acrocephalosyndactyly,Type III Acrocephalosyndactyly,Type V Acrocephalosyndactylies,Type V Acrocephalosyndactyly
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Prenatal diagnosis of type 2 Pfeiffer syndrome.
December 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Pfeiffer syndrome, type II.
December 2001, Journal of perinatology : official journal of the California Perinatal Association,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.
October 2021, Clinical case reports,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Pfeiffer syndrome: the importance of prenatal diagnosis.
October 2014, European journal of obstetrics, gynecology, and reproductive biology,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Kleeblattschädel in Pfeiffer syndrome type II.
May 2020, Radiology case reports,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
April 2018, Prenatal diagnosis,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation.
April 2013, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
September 2017, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome.
January 1997, Clinical dysmorphology,
Bettina Blaumeiser, and Philip Loquet, and Wim Wuyts, and Markus M Nöthen
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.
January 1994, American journal of medical genetics,
Copied contents to your clipboard!