Arthrogryposis multiplex congenita and pena-shokeir phenotype: Challenge of prenatal diagnosis - Report of 21 cases, antenatal findings and review

Fetal Diagnosis and Therapy

Volumn 30, Issue 4, 2011, Pages 289-298

  Hoellen, Friederike ^a   Schröer, Andreas ^a   Kelling, Katharina ^a   Krapp, Martin ^b   Axt Fliedner, Roland ^c   Gembruch, Ulrich ^d   Weichert, Jan ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b Prenatal Medicine   (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

Arthrogryposis; Joint contractures; Limb anomalies; Lung hypoplasia; Pena Shokeir phenotype; Polyhydramnios; Ultrasound

Indexed keywords

ADULT; AKINESIA; ANTERIOR HORN CELL; ARTHROGRYPOSIS; AUTOPSY; BRACHYDACTYLY; CAMPTODACTYLY; CLINICAL ARTICLE; CLUBFOOT; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; FETUS MOVEMENT; FETUS WEIGHT; FOLLOW UP; GASTROSCHISIS; GENERALIZED EDEMA; GESTATIONAL AGE; HAND MALFORMATION; HEART VENTRICLE SEPTUM DEFECT; HIGH RISK PREGNANCY; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYDROTHORAX; HYPOKINESIA; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; KARYOTYPE; KLINEFELTER SYNDROME; KYPHOSCOLIOSIS; LIMB DEFECT; LUNG HYPOPLASIA; MEDICAL RECORD REVIEW; MICROGNATHIA; MOTOR NEUROPATHY; MYELODYSPLASTIC SYNDROME; OMPHALOCELE; PENA SHOKEIR SYNDROME TYPE 1; PHENOTYPE; PREGNANCY TERMINATION; PREMATURE LABOR; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PTERYGIUM; REVIEW; SKELETON MALFORMATION; SPINAL MUSCULAR ATROPHY; TERTIARY HEALTH CARE;

ADULT; ARTHROGRYPOSIS; BONE AND BONES; DIAGNOSIS, DIFFERENTIAL; EYE ABNORMALITIES; FACE; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL;

EID: 82955161750     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000331401     Document Type: Review

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