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Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review. 2010

Maria Respondek-Liberska, and Robert Smigiel, and Andrzej Zielinski, and Maria Malgorzata Sasiadek
Department for Fetal Congenital Malformations Diagnoses and Prevention, Medical University of Lodz, Poland. majkares@uni.lodz.pl

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.

UI MeSH Term Description Entries
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
D011262 Pregnancy Trimester, Second The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation. Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
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
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
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
D016216 Ultrasonography, Prenatal The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease. Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses
D019465 Craniofacial Abnormalities Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. Abnormalities, Craniofacial,Abnormality, Craniofacial,Craniofacial Abnormality

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